U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Show details

47,XXY

  • Same entry as in Incontinentia pigmenti (The, 2001).
  • Abdelmoula N B, Amouri A, Portnoi M-F, Saad A, Boudawara T A, Mhiri M N, Bahloul A, Rebai T.: Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter''s syndrome. Ann. Genet. DOI=10.1016/j.anngen.2003.08.024; 47:163-175, 2003 and 2004. [PubMed: 15183749]
    FISH is recommended for KS to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.
    Index Terms: KS and FISH
  • Abidi S M N, Griffiths M, Oscier D G, Mufti G J, Hamblin T J: Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter''s syndrome. J. Med. Genet. 23:183-185, 1986. [PMC free article: PMC1049580] [PubMed: 3712399]
    Patient was 68 years old.
    Index Terms: Klinefelter syndrome
  • Abramsky L, Chapple J.: 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat. Diag. 17:363-368, 1997. [PubMed: 9160389]
    Abramsky L, Hall S, Levitan J, Marteau T M.: What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionaire study. BMJ 322:463-466, 2001. [PMC free article: PMC26562] [PubMed: 11222421]
    Biesecker B.: Prenatal diagnoses of sex chromosome conditions. Parents need more than just accurate information. BMJ 322:441-442, 2001. [PMC free article: PMC1119670] [PubMed: 11222404]
    Hall S, Abramsky L, Marteau T M.: Health professionals'' reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: a pilot study. Prenat. Diag. 23:535-538, 2003. [PubMed: 12868077]
    Abramsky et al studied 23 families: 47,XXY (8); 47,XYY (3); 45,X (2); 47,XXX (8); 47,XXY/46,XY (1); and 47,XYY/45,X(1).
    A very good viewpoint is presented by Biesecker and the authors of the original study.
  • Albazzaz S J: Klinefelter''s syndrome with anomalous origin of left main coronary artery. Catheteriz. Cardiovasc. Diag. 20:241-243, 1990. [PubMed: 2208251]
    Patient was 38 years old.
    Index Terms: Cardiovascular,Left main coronary artery,Left main coronary artery
  • Alvesalo L, Laine T: Occlusion in the 47,XXY (Klinefelter syndrome) men. Am. J. Phys. Anthrop. 87:161-165, 1992. [PubMed: 1543242]
    Alvesalo L, Portin P: 47,XXY males: Sex chromosomes and tooth size. AJHG 32:955-959, 1980. [PMC free article: PMC1686171] [PubMed: 7446531]
    Laine T, Alvesalo L: Palatal and alveolar arch dimensions in 47,XXY (Klinefelter syndrome) men. Hum. Biol., 1993. [PubMed: 8436386]
    29 men were studied.
    It is hypothesized that a specific growth gene (or genes) are located on the human X and Y chromosomes and that the Y chromosome is more effective than X chromosomes. The frequent occlusal anomaly was mesial molar occlusion. XXY men show a tendency to have a shallower, narrower but longer palate than XY men. Mandible is clearly narrower but sagittaly longer.
    Index Terms: Mesial molar occlusion,Palate,Mandible
  • Appelman Z, Caspi B: Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy. Prenat. Diag. 12:215-217, 1992. [PubMed: 1589422]
    Fetus No. 2.
    mos46,XY/47,XXY(50% each).
    Index Terms: Selective termination,Triplets
  • Arens R, Marcus D, Engelberg S, Findler G, Goodman R M, Passwell J H: Cerebral germinomas and Klinefleter syndrome. A review. Cancer 61:1228-1231, 1988. [PubMed: 3277702]
    Patient was 15 years old.
    Index Terms: Cancer,Klinefelter syndrome
  • Arico M, Colombo A, Maserati E, Pasquali F, Burgio G R: The 47,XXY karyotype and unrelated malformative patterns: an unusual association. Helv. Paediat. Acta 42:457-461, 1987. [PubMed: 3454351]
    Three patients are presented.
    One patient had features suggestive of Noonan and two of Silver-Russell syndrome.
    Index Terms: Noonan syndrome,Russell-Silver syndrome
  • Armbruster-Moraes E, Schultz R, de Lourdes Brizot M, Miyadahira S, Zugaib M.: Holoprosencephaly in a Klinefelter fetus. AJMG 85:511-512, 1999. [PubMed: 10405452]
    Mother was 27 years old. Nuchal translucency and follow-up ultrasound examinations revealed holoprosencephaly. CVS examination showed the karyotype.
    MIM#: 236100
    Index Terms: Holoprosencephaly
  • Arps S, Koske-Westphal T, Meinecke P, Meschede D, Nieschlag E, Harprecht W, Steuber E, Back E, Wolff G, Kerber S, Held K R.: Isochromosome Xq in Klinefelter syndrome: report of 7 new cases. AJMG 64:580-582, 1996. [PubMed: 8870925]
    Cases A and B were ascertained via prenatal diagnosis. The other 5 cases were ranging in age from 21-41 years suggestive of KS and associated with infertility.
    47,X,i(Xq),Y.
    Tall stature may not be associated with this karyotype.
    Chromosomal Aneuploidy: Xq+
    Index Terms: Klinefelter syndrome and iso(Xq)
  • Ars E, Tazon-Vega B, Ruiz P, Nogues C, Arnedo N, Rajmil O, Torra R.: Male-to-male transmission of X-linked Alport syndrome in a boy with 47,XXY karyotype. Europ. J. Hum. Genet. 13:1040-1046, 2005. [PubMed: 15957001]
    47,XXY.
    The 5 year old presented with macrohematuria, proteinuria with family history.
    The extra X chromosome was paternal in origin.
    MIM#: 301050
    Index Terms: Alport syndrome (AS) and KS
  • Bakshi S R, Trivedi P J, Brahmbhatt M M, Rawal S M, Kakakdia P M, Bhatt S S, Shukla S N.: Aplastic anemia and Klinefelter syndrome. Cancer Genet. Cytogenet. 154:91-92, 2004. [PubMed: 15381382]
    Index Terms: KS and Aplastic anemia
  • Barnes-Kedar I, Amiel A, Maor O, Fejgin M: Elevated human chorionic gonadotropin levels in pregnancies with sex chromosome abnormalities. AJMG 45:356-357, 1993. [PubMed: 8434623]
    Cases 1 and 3.
    Both pregnancies were terminated.
    Index Terms: Maternal ... serum chorionic gonadotropin,MShCG
  • Baroncelli G I, Bertelloni S, Perri G, Saggese G.: Association between X-linked hypophosphatemic rickets and Klinefelter''s syndrome: effects on growth and body proportion. Hum. Genet. 95:581-585, 1995. [PubMed: 7759083]
    Patient C.G. diagnosed prenatally because of advanced maternal age.
    Normal growth was seen!
    Index Terms: Rickets hypophosphatemic X-linked
  • Bartsch-Sandhoff M, Stephan L, Rohrborn G, Pawlowitzki I H, Scholz W: A case of testicular feminization with the karyotype 47,XXY. Hum. Genet. 31:59-65, 1976. [PubMed: 1248824]
    Index Terms: Testicular ... feminisation
  • Bauduceau B, Larroque P, Clement R, Chanudet X, Celton H, Garcin J M, Gautier D: Deep vein thrombosis as the first manifestation of Klinefelter syndrome. Report of a case. Sem. Hop. Paris 64:1237-1239, 1988.
    Monsieur G....
    Patient was 21 years old.
    Index Terms: Thrombosis
  • Bellastella A, Criscuolo T, Sinisi A A, Iorio S, Sinisi A A, Rinaldi A, Faggiano M: Circannual variations of plasma testosterone, luteinizing hormone, follicle-stimulating hormone and prolactin in Klinefelter''s syndrome. Neuroendocrinology 42:153-157, 1986. [PubMed: 3081826]
    It is suggested that the circannual hormone rhythmicity may be influenced by seminiferous tubule dysgenesis.
    Index Terms: Klinefelter syndrome
  • Bender B G, Fry E, Pennington B, Puck M H, Salbenblatt J A, Robinson A: Speech and language development in 41 children with sex chromosome anomalies. Pediatrics 71:262-267, 1983. [PubMed: 6823432]
    Patwardhan A J, Brown W E, Bender B G, Linden M G, Eliez S, Reiss A L.: Reduced size of the amygdala with 47,XXY and 47,XXX individuals. AJMG DOI=10.1002/ajmg.10154; 114:93-98, 2002. [PubMed: 11840512]
    Patwardhan et al (2001) found reduced amygdala volumes in the 47,XXY men (10) studied.

    Patwardhan A J, Eliez S, Bender B, Linden M G, Reiss A L.: Brain morphology in Klinefelter syndrome. Extra X chromosome and testosterone supplementation. Neurology 54:2218-2223, 2000. [PubMed: 10881243]
    A history of testosterone supplementation appeared to be associated with increased verbal fluency scores in KS patients! This conclusion, if proven, is of interest because the Denver team had consistently claimed in the past, that sex chromosome aneuploidy individuals to begin with are not that different from chromosomally normal controls (DSB). Also see the Editorial by Drs. Kates and Singer on pages 2201-2202 in the same issue.
    Bender et al did not find significant differences (n=14).
    Index Terms: Language deficit,Testosterone supplementation in KS
  • Ben-Neriah Z, Anteby E, Zelikoviz B, Bach G: Increased maternal serum human chorionic gonadotropin level associated with Klinefelter''s syndrome. Prenat. Diag. 11:923-924, 1991. [PubMed: 1725213]
    Index Terms: Maternal ... serum chorionic gonadotropin
  • Bergere M, Wainer R, Nataf V, Bailly M, Gombault M, Ville Y, Selva J.: Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum. Reprod. 17:32-37, 2002. [PubMed: 11756358]
    Four patients were studied.
    It is suggested that only 46,XY cells can undergo meiosis!
    Index Terms: Meiosis in KS
  • Bertelloni S, Baroncelli G I, Battini R, Saggese G.: Central precocious puberty in Klinefelter syndrome: a case report with longitudinal follow-up of growth pattern. AJMG 65:52-55, 1996. [PubMed: 8914741]
    Fryns J P, Devriendt K.: Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? AJMG 72:122, 1997. [PubMed: 9295090]
    Patient C.G. was 7 3/12 years old.
    The Belgian data showed that 2/743 males had precocious puberty, and were severely mentally retarded.
    Index Terms: Precocious puberty
  • Blayney D W: Quinine-associated immune thrombopenia, neutropenia, and renal failure in a patient with Klinefelter''s syndrome. Blood 80:2686, 1992. [PubMed: 1421383]
    Index Terms: Renal ... failure,Neutropenia,Thrombopenia ... quinine-associated immune
  • Bleau G, Richer C L, Chapdelaine A, Roberts K D: Hormone study in a case of Klinefelter syndrome with an isochromosome Xq. Int. J. Fertil. 32:50-55, 1987. [PubMed: 2880816]
    Patient was 30 years old with azoospermia, and increased level of FSH.
    47,X,i(Xq),Y.
    Index Terms: Azoospermia,Klinefelter syndrome
  • Bourne H, Stern K, Clarke G, Pertile M, Speirs A, Gordon Baker H W.: Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter''s syndrome. Hum. Reprod. 12:2447-2450, 1997. [PubMed: 9436682]
    Blood=47,XXY[99 cells]/46,XY[1 cell] (reported as an artifact).
    The couple had 3 years of primary infertility. Normal stature, absence of gynecomastia, normal semen volume, elevated FSH and small testes.
    Healthy twins, a male and a female and chromosomally normal were delivered!
    Index Terms: ICSI in KS
  • Brun J-L, Gangbo F, Wen Z Q, Galant K, Taine L, Maugey-Laulom B, Roux D, Mangione R, Horovitz J, Saura R.: Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat. Diag. 24:213-218, 2004. [PubMed: 15057956]
    31 fetuses were diagnosed, main indication was advanced maternal age (60%). The termination rate was 32% and declined in later years.
  • Bunge S, Steglich C, Lorenz P, Beck M, Xu S, Hopwood J J, Gal A.: Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation. Prenat. Diag. 14:777-780, 1994. [PubMed: 7845883]
    Identification of iduronate-2-sulphatase (IDS) gene mutation in a prenatal case was made. The child was not affected with MPS II, Hunter syndrome.
    MIM#: 309900
    Index Terms: Mucopolysaccharidosis type II
  • Butler M G, Hedges L K, Rogan P K, Seip J R, Cassidy S B, Moeschler J B.: Klinefelter and Trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15 - a coincidence? AJMG 72:111-114, 1997. [PMC free article: PMC6025896] [PubMed: 9295086]
    Geffroy S, Evrard V, Taufour D, Vanderbecken S, de Martinville B.: Further example of a patient with Prader-Willi and Klinefelter syndromes of different parental origins. AJMG 80:286-287, 1998. [PubMed: 9843055]
    Stratakis C A.: Prader-Willi syndrome phenotype in X chromosome anomalies: evidence for a distinct phenotype. AJMG 80:294-295, 1998. [PubMed: 9843058]
    Geffroy et al described a patient with a paternally inherited 15q11q13 deletion and the additional X chromosome resulted from a maternal meiosis I nondisjunction.
    Stratakis'' patient had 47,XXY chromosomes without any abnormalities for the 15q11-12 PWS region and in methylation studies.
    Patient A:
    47,XXY in blood done at 2 years of age because of developmental delay.
    PWS diagnosed at 3 years of age and confirmed by studies.
    X-Y nondisjunction occurred during the paternal meiosis. UPD(15)mat was demonstrated using MS620 probe.
    Index Terms: Prader-Willi syndrome
  • Butt A M, Mehta D, Goodeve J A, Flinter F A: Probable de novo 17q duplication (q11.2 to q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter''s syndrome. J. Med. Genet. 30:436-437, 1993. [PMC free article: PMC1016388] [PubMed: 8320713]
    47,XXY,dup(17)(q11.2->q21.1)de novo.
  • Campbell W A, Newton M S, Price W H: Hypostatic leg ulceration and Klinefelter''s syndrome. J. Ment. Def. Res. 24:115-117, 1980. [PubMed: 7411595]
    A higher frequency of hypostatic leg ulceration and varicose veins was found.
    Index Terms: Klinefelter syndrome,Legs ... ulceration, hypostatic,Varicose veins
  • Campbell W A, Price W H: Venous thromboembolic disease in Klinefelter''s syndrome. Clin. Genet. 19:275-280, 1981. [PubMed: 7273469]
    The prevalence of past or present hypostatic ulceration was 6%,(n=412 patients), which was 20-50 times higher than that in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient-years at risk. The frequency of pulmonary embolism was 16 cases per 10,0000 patient-years at risk.
    Index Terms: Klinefelter syndrome,Thrombosis
  • Carothers A D, Collyer S, De Mey R, Johnstone I: An aetiological study of 290 XXY males, with special reference to the role of paternal age. Hum. Genet. 68:248-253, 1984. [PubMed: 6542064]
  • Carothers A D, Filippi G: Klinefelter''s syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. Hum. Genet. 81:71-75, 1988. [PubMed: 3198129]
    Filippi G: Klinefelter''s syndrome in Sardinia. Clinical report of 265 hypogonadic males detected at the time of military check-up. Clin. Genet. 30:276-284, 1986. [PubMed: 3791676]
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism,Klinefelter syndrome
  • Carson D J, Okuno A, Lee P A, Stetten G, Didolkar S M, Migeon C J: Amniotic fluid steroid levels. Fetuses with adrenal hyperplasia, 47,XXY fetuses, and normal fetuses. AJDC 136:218-222, 1982. [PubMed: 7064946]
    Steroid concentrations from two fetuses with Klinefelter syndrome (47,XXY) were not abnormal.
    Index Terms: Adrenal hyperplasia,Klinefelter syndrome
  • Carter J N, Wiseman D G H, Lee H B: Klinefelter''s syndrome with hypogonadotrophic hypogonadism. BMJ 1:212, 1977. [PMC free article: PMC1604381] [PubMed: 832081]
    This unusual association was found in a 70-year-old patient.
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism,Klinefelter syndrome
  • Chaussain J L, Lemerle J, Roger M, Canlorbe P, Job J C: Klinefelter syndrome, tumor, and sexual precocity. J. Ped. 97:607-609, 1980. [PubMed: 6252308]
    Three cases are presented of 1 year, 5 year, and 9 year old.
    Index Terms: Klinefelter syndrome
  • Cheng W F, Huang S C, Ko T M.: Prenatal diagnosis of 46,XX/47,XXY mosaicism: a case report. Prenat. Diag. 15:64-65, 1995. [PubMed: 7740000]
    Mosaicism was confirmed in several tissues. Autopsy revealed undescended testes, and microscopic examination showed testicular tissue in both gonads.
    Index Terms: Mosaicism
  • Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B.: Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male. Hum. Genet. 97: 171-175, 1996. [PubMed: 8566948]
    It appears that a few of the 47,XXY germ cells complete meiosis.

    Cozzi J, Chevret E, Rousseaux S, Pelletier R, Benitz V, Jalbert H, Sele B: Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient. Hum. Genet. 93:32-34, 1994. [PubMed: 8270252]
    mos46,XY(60%)/47,XXY(40%).
    Patient was a voluntary sperm donor.
    Results suggest that 47,XXY cells are able to go through meiosis.
    Index Terms: Meio(sis),Sperm
  • DADA study group comprising Marteau T M, Nippert I, Hall S, Limbert C, Reid M, Bobrow M, Cameron A, Cornel M, van Diem M, Eiben B, Garcia-Minaur S, Goujard J, Kirwan D, McIntosh K, Soothill P, Verschuuren-Bemelmans C, de Vigan C, Walkinshaw S, Abramsky L, Louwen F, Miny P, Horst J.: Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat. Diag. 22:562-566, 2002. [PubMed: 12124688]
    111 prenatally diagnosed cases between 1986 and 1997 were studied.
    The overall termination rate was 44%. Significant factor was the speciality of health professional: more continuation when a genetics specialist was involved.
  • Deb S, Cowie V A, Timberlake C: A case of mosaicism with fragile-X and XXY components. Brit. J. Psychiat. 150:700-702, 1987. [PubMed: 3651709]
    Patient was 63 years old with features of Klinefelter syndrome.
    mos46,XY(98%)/47,XXY(2%) with 34% fra(X) in both types of cells.
    Index Terms: Klinefelter syndrome
  • Derenoncourt A N, Castro-Magana M, Jones K L.: Mediastinal teratoma and precocious puberty in a boy with mosaic Klinefelter syndrome. AJMG 55: 38-42, 1995. [PubMed: 7535510]
    mos46,XY/47,XXY
    Patient seen initially at 9 9/12 years for a swelling over his left shoulders. This is the first instance of KS mosaicism reported with a mediastinal germ cell tumor.
    The authors recommend that all males with KS and early sexual development or with "normal" testicular growth be screened with measurement of germ cell tumor markers including beta-subunit of human chorionic gonadotropin and alpha-fetoprotein.
    Index Terms: Puberty ... precocious,Mediastinal teratoma
  • Donlan M A, Dolan C R, Metcalf M J, Bradley C M, Salk D J: Trisomy Xq in a male: The isochromosome X Klinefelter syndrome. AJMG 27:189-194, 1987. [PubMed: 3605195]
    Patient M.B. was 17 years old.
    47,XY,+i(Xq).
    Chromosomal Aneuploidy: Xq+
    Index Terms: Klinefelter syndrome
  • Ellis S J, Crockard A, Barnard R O: Klinefelter''s syndrome, cerebral germinoma, Chiari malformation, and syrinx: a case report. Neurosurgery 18:220-222, 1986. [PubMed: 2421193]
    Index Terms: Chiari malformation,Cerebral ... germinoma,Syrinx
  • Eskenazi B, Wyrobek A J, Kidd S A, Lowe X, Moore D II, Weisiger K, Aylstock M.: Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Hum. Reprod. 17: 576-583, 2002. [PubMed: 11870106]
    36 families with KS were studied. Men who fathered a child with KS produced higher frequencies of XY sperm aneuploidy, which is explained, in part, by both paternal age and parent of origin.
    Index Terms: Sperm aneuploidy in fathers of KS
  • Estop A M, Munn+¬ S, Cieply K M, Vandermark K K, Lamb A N, Fisch H.: Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum. Reprod. 13:124-127, 1998. [PubMed: 9512242]
    Munn+¬ S, Magli C, Bahce M, Fung J, Legator M, Morrison L, Cohert J, Gianaroli L.: Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat. Diag. 18:1459-1466, 1998. [PubMed: 9949446]
    Index Terms: Sperm in KS
  • Everding A S, Kurlemann G, Gerding H, Bombelburg T, Palm D G, Gullotta F, Zierz S: Concordance of Kearns-Sayre-syndrome and Klinefelter-syndrome. Monat. Kinderheil. 136:698-700, 1988. [PubMed: 3237225]
    R.K.
    Index Terms: Ophthalmoplegia
  • Faed M J W, Lamont M A, Morton H G, Robertson J, Smail P J: An XYY boy with short stature and a case of Klinefelter''s syndrome (XXY) in a family with inversion 9. Clin. Genet. 14:241-245, 1978. [PubMed: 699364]
    Patient with Klinefelter''s syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9.
    Index Terms: Stature ... short (low)
  • Felix T M, Tansey M J, Patil S, Murray J C, Dagle J M.: Double paternal nondisjunction in an infant with transient neonatal daibetes mellitus and Klinefelter syndrome. AJMG (Part A): 143A: 895-898, 2007. [PubMed: 17366578]
    Index Terms: Transient neonatal diabetes mellitus and KS
  • Flannery D B, Brown J A, Redwine F O, Winter P, Nance W E: Antenatally detected Klinefelter''s syndrome in twins. Acta Genet. Med. Gemellol. 33:51-56, 1984. [PubMed: 6741419]
  • Folomeev M, Kosheleva N, Alekberova Z: Systemic lupus erythematosus associated with Klinefelter''s syndrome - a case report. J. Rheumat. 18:940-941, 1991. [PubMed: 1895282]
    MIM#: 152700
    Index Terms: Systemic lupus erythematosus
  • Forssman H, Thuwe I, Eriksson B: Children with supernumerary X-chromosome. A ten-year follow-up study of school children in special classes. J. Ment. Def. Res. 23:189-193, 1979. [PubMed: 159953]
    Subjects were 8 boys and 8 girls. The risks of social behavior disturbances, criminality, and alcohol abuse were studied, together with that of mental disorder. For the boys, the Klinefelters showed a lower frequency of social behaviour disturbances than their controls.
    Index Terms: Criminality
  • Froster-Iskenius U, Schwinger E, Weigert M, Fonatsch C.: Replication pattern in XXY cells with fra(X). Hum. Genet. 60:278-280, 1982. [PubMed: 7201972]
    Patient M.K.:
    The patient was 16yo.
  • Fryns J P, Kleczkowska A, Van Den Berghe H: 47,XXY karyotype in a patient with Beckwith-Wiedemann syndrome. Ann. Genet. 29:112-113, 1986. [PubMed: 3490205]
    The patient was 14 years old.
    MIM#: 130650
    Index Terms: Beckwith-Wiedemann syndrome
  • Fuse H, Shiseki Y, Sumiya H, Shimazaki J, Takahara M: Klinefelter''s syndrome with prepenile scrotum. Urology 40:438-440, 1992. [PubMed: 1441042]
    Case 2.
    mos46,XY/47,XXY.
    Index Terms: Prepenile scrotum
  • Garcia-Dorado J, de Unamuno P, Fernandez-Lopez E, Salazar Veloz J, Armijo M: Incontinentia pigmenti: XXY male with a family history. Clin. Genet. 38:128-138, 1990. [PubMed: 2208764]
    MIM#: 308300
  • Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, Donti E, Rosi E: A case of complete testicular ferminisation and 47,XXY karyotype. J. Med. Genet. 16:480-483, 1979. [PMC free article: PMC1012597] [PubMed: 575389]
    Father was 48 and mother 40 at birth of the 35 year old proband. The endocrine system resembles Klinefelter. Y chromosome has rather short heterochromatic portion. Individual also has Morris syndrome.
    Index Terms: Morris syndrome,Testicular ... feminisation
  • Geschwind D H, Gregg J, Boone K, KarrimJ, Pawlikowska-Haddal A, Rao E, Ellison J, Ciccodicola A, D''urso M, Woods R, Rappold G A, Swerdloff R, Nelson S F.: Klinefelter''s syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray. Develop. Genet. 23:215-229, 1998. [PubMed: 9842716]
    Index Terms: Cerebral laterality
  • Goffi S, Isaia G C, Molinatti G M, Massara F: Effect of naloxone on gonadotropin secretion before and after testosterone in Klinefelter''s syndrome. Psychoneuroendocrinology 10:337-344, 1985. [PubMed: 3933025]
  • Grace R J: Klinefelter''s syndrome: a late diagnosis. Lancet 364:284, 2004. [PubMed: 15262107]
  • Graham J M, Jr, Bashir A S, Stark R E, Silbert A, Walzer S: Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics 81:795-806, 1988. [PubMed: 3368277]
  • Grant W W, Hamerton J L: A cytogenetic survey of 14,069 newborn infants. II. Preliminary clinical findings on children with sex chromosome anomalies. Clin. Genet. 10:285-302, 1976. [PubMed: 791541]
    Early developmental data on cases N.B. #5,420, #6,196, #7,703, #7,755, #9,333 and #9,495 are described.
  • Gurgey A, Kara A, Tuncer M, Alikasifoglu M, Tuncbilek E: Acute lymphoblastic leukemia associated with Klinefelter syndrome. Ped. Hemat. Oncol. 11:227-228, 1994. [PubMed: 8204450]
    Patient was 4 years old.
    Index Terms: Leukemia ... acute lymphoblastic
  • Gustavson K H, Gamstorp I, Meurling S: Bilateral teratoma of testis in two brothers with 47,XXY Klinefelter''s syndrome. Clin. Genet. 8:5-10, 1975. [PubMed: 1149322]
    Cases A.I. (160872) and T.E. (160873) in this report.
    Occurrence of 47,XXY condition in two brothers is a rare event.
    Index Terms: Cancer ... gonadal tumors,Teratoma
  • Gustavson K H, Kjessler B, Thoren S: Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21-trisomic child. Clin. Genet. 13:477-480, 1978. [PubMed: 668184]
  • Guttenbach M, Engel W, Schmid M.: Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum. Genet. 100:1-21, 1997. [PubMed: 9225963]
    Guttenbach M, Michelmann H W, Hinney B, Engel W, Schmid M.: Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter''s karyotype: a FISH analysis. Hum. Genet. 99:474-477, 1997. [PubMed: 9099836]
    There is evidence that XXY cells are producing sperm nuclei and that some anomalous segregation takes place.

    Kremer J A M, Tuerlings J H A M, Meuleman E J H, Schoute F, Mariman E, Smeets D F C M, Hoefsloot L H, Braat D D M, Merkus H M W M.: Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum. Reprod. 12:687-691, 1997. [PubMed: 9159425]
    mos46,XY(12)/47,XXY(18) with oligozoospermia.,mos46,XY(30)/47,XXY(4) with azoospermia
    Three patients were in the group of men being considered for ICSI.
    Index Terms: Sperm
  • Harari O, Bourne H, Baker G, Gronow M, Johnston I.: High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter''s syndrome. Fert. Steril. 63:182-184, 1995. [PubMed: 7805909]
    Index Terms: Fertilization, sperm injection
  • Hassold T J, Sherman S L, Pettay D, Page D C, Jacobs P A: XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. AJHG 49:253-260, 1991. [PMC free article: PMC1683286] [PubMed: 1867189]
    Thomas N S, Collins A R, Hassold T J, Jacobs P A.: A reinvestigation of non-disjunction resulting in 47,XXY males of paternal origin. Europ. J. Hum. Genet. 8:805-808, 2000. [PubMed: 11039584]
    Data has been presented to suggest that most paternally derived 47,XXYs result from meiosis in which the X and Y chromosomes did not recombine.
    Index Terms: XY pairing
  • Hazard J, Rozenberg I, Perlemuter L, Kestenbaum S, Vendrely E, Raoul O, Fiet J, Villete J M: Gonadotropin responses to low dose pulsatile administration of GnRH in a case of anosmia with hypogonadotropic hypogonadism associated with gonadal dysgenesis 47,XXY. Acta Endocrinol. 113:593-597, 1986. [PubMed: 3098018]
    Patient was 25 years old.
    47,XXY.
    MIM#: 308700
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism
  • Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann W J, Froster U G.: Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. AJMG 132A:198-201, 2005. [PubMed: 15578587]
    47,XX,+idic(Y)[15].,47,XX,+idic(Y)(pter->q12::q12->pter)[25].
    Patient was a 31 year old forensic psychiatry patient with a history of disturbance of the public peace, severe robbery, and bribery done after alcohol abuse, along with a history of sever behavioral problems starting in childhood.
    Using the X chromosome markers, it was shown that non-disjunction occurred in paternal meiosis I.
    Index Terms: KS with idic(Y)
  • Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann H W. : Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter''s karyotype. Fert. Steril. 68:718-720, 1997. [PubMed: 9341617]
    The 24-year-old had primary hypogonadism with cryptozoospermia and 47,XXY chromosomes in all the 50 cells analysed in blood culture preparations. The pregnancy stopped developing after 9 weeks and was 46,XX.
    Index Terms: ICSI
  • Hjalgrim H, Groenskov K, Noergaard K, Broendum-Nielsen K.: Paternal nondisjunction in a 47,XY,fra(X). AJMG 83:280, 1999. [PubMed: 10208161]
    Patient MH was 15 1/2 years old and referred because of psychomotor delay and a recent diagnosis of fragile X syndrome in the famliy.
    47,XY,fra(X)[8%].
    Paternal meiotic I nondisjunction was showed using DXS278 and DXS255 markers.
    Index Terms: Paternal nondisjunction in 47,XY,fra(X)
  • Holmes-Siedle M, Ryynanen M, Lindenbaum R H: Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality. Prenat. Diag. 7:239-244, 1987. [PubMed: 3588542]
    A decision to continue the pregnancy was made more often for XYY and XXX rather than for XXY and 45,X.
  • Hook E B: Racial differentials in the prevalence rates of males with sex chromosome abnormalities (XXY, XYY) in security settings in the United States. AJHG 26:504-511, 1974. [PMC free article: PMC1762595] [PubMed: 4842774]
  • Horowitz M, Wishart J M, O''Loughlin P D, Morris H A, Need A G, Nordin B E C: Osteoporosis and Klinefelter''s syndrome. Clin. Endocrinol. 36:113-118, 1992. [PubMed: 1532769]
    22 patients were studied.
    Decreased bone density was observed in about 25% of the patients.
    Index Terms: Osteoporosis,Bone density
  • Iitsuka Y, Bock A, Nguyen D D, Samango-Sprouse C A, Simpson J L, Bischof F Z.: Evidence of skewed X-chromosome inactivation in 47,XXy and 48,XXYY Klinefelter patients. AJMG 98:25-31, 2001. [PubMed: 11426451]
    17 XYY cases and 2 XXYY cases were studied.
    The results indicate that the wide range in phenotypic abnormalities and mental deficiency may be realted to the skewed X-chromosome inactivation in these patients.
    Index Terms: X-inactivation
  • Isobe K, Niwa T, Ohkubo M, Ohba M, Shikano M, Watanabe Y, Isobe K, Niwa T, Ohkubo M, Ohba M, Shikano M, Watanabe Y: Klinefelter''s syndrome accompanied by diabetes mellitus and diabetes insipidus. Int. Med. (Japan) 31:917-921, 1992. [PubMed: 1450502]
    Index Terms: Diabetes
  • Isurugi K, Imao S, Hirose K, Aoki H: Seminoma in Klinefelter''s syndrome with 47,XXY,15s+ Karyotype. Cancer 39:2041-2047, 1977. [PubMed: 858129]
    Case R. T.(37 years old) in this report.
    Index Terms: Seminoma
  • Jacobs P A, Bacino C, Hassold T J, Morton N E, Keston M, Lee M: A cytogenetic study of 47,XXY males of known origin and their parents. Ann. Hum. Genet. 52:319-325, 1988. [PubMed: 3268043]
    Jacobs P A, Hassold T J, Whittington E, Butler G, Collyer S, Keston M, Lee M: Klinefelter''s syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann. Hum. Genet. 52:93-109, 1988. [PubMed: 2907853]
    Swerdlow A J, Hermon C, Jacobs P A, Alberman E, Beral V, Daker M, Fordyce A, Youings S.: Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann. Hum. Genet. 65:177-188, 2001. [PubMed: 11427177]
    Swerdlow et al found 163 deaths among 646 KS patients giving a relative risk of 1.63. Mortality was from diabetes and diseases of the cardiovascular, respiratory and digestive systems.
  • Jacobs P A, Strong J A: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303, 1959. [PubMed: 13632697]
    The chromosome constitution was first described by these authors in a clinical condition commonly referred as Klinefelter syndrome but it was not cited as such by the authors of this report.
  • Kalousek D K, Cushman Biddle C J, Rudner M, Arronet G H, Fraser F C: 47,X,i(X),Y karyotype in Klinefelter''s syndrome. Hum. Genet. 43:107-110, 1978. [PubMed: 566715]
    A 24 year-old with Klinefelter syndrome was found to have this unusual karyotype.
  • Keller K, Williams C, Seagle B.: Klinefelter syndrome and cutis verticis gyrata. AJMG 103:249-251, 2001. [PubMed: 11746000]
    Willimas C A.: Correction email, October 5, 2001.
    Case 1=49,XXXXY.,Case 2=mos47,XXY/48,XXY,+mar/49,XXY,+mar,+mar.,Case 3=47,XXY.
    CVG, presence of redundant scalp skin that mimics the gyral pattern of the cerebral cortex, was present in these three patients ascertained for various reasons such as acromegaly syndrome, redundant skin over his gabella.
    Index Terms: Cutis verticis gyrata (CVG)
  • Khalifa M M, Struthers J L.: Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males. Clin. Genet. 61:49-53, 2002. [PubMed: 11903356]
    8/670 (1.2%) prepubertal males had KS, claimed to be a case of underdiagnosis of this condition.
  • Kirsch-Volders M, Hens L, van den Berghe H, Scholberg B, Susanne C: Chromosome distribution studies in XXY karyotypes. J. Med. Genet. 19:57-62, 1982. [PMC free article: PMC1048820] [PubMed: 7069748]
  • Kleczkowska A, Fryns J P, Van den Berghe H: X-chromosome polysomy in the male. The Leuven experience 1966-1987. Hum. Genet. 80:16-22, 1988. [PubMed: 3417301]
    569 patients with several kinds of karyotypes are reported.
  • Klinefelter H F, Jr: Klinefelter''s syndrome: Historical background and development. Southern Med. J. 79:1089-1093, 1986. [PubMed: 3529433]
    Klinefelter syndrome and associates is a non-profit organization at P O Box 119, Roseville, CA 95678, 916-496-5133 and @www.genetic.org
    The Klinefelter syndrome was described in this classic paper after examination of nine patients.
    Index Terms: Gynecomastia,Klinefelter syndrome
  • Kondo T: Klinefelter syndrome associated with juvenile hypothyroidism due to chronic thyroiditis. Europ. J. Pediat. 152:540, 1993. [PubMed: 8335031]
    Patient was 9 years 4 month old.
    Index Terms: Thyroid ... chronic thyroiditis,Hypothyroidism ... juvenile
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
  • Kruse R, Guttenbach M, Schartmann B, Schubert R, van der Ven H, Schmid M, Propping P.: Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter''s syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection. Fert. Steril. 69:482-485, 1998. [PubMed: 9531882]
    The patient was 40 years old with an history of primary infertility.
    Blood=48,XXXY[2.1%]/47,XXY[91.8%]/46,XY[6.1%] in 49 mitosis.,Skin=48,XXXY[1.5%]/47,XXY[89.1%]/46,XY[9.4%] in 64 mitosis.
    FISH studies were done to determine the extent of abnormal sperms [7.5%].
    Index Terms: ICSI
  • Kuliev A, Verlinsky Y.: Meiotic and mitotic non disjunction: lessons from preimplantation genetic diagnosis. Hum. Redprod. Update 10: 401-407, 2004. [PubMed: 15319376]
    Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, Liebaers I, Van Steirteghem A. : PGD in 47,XXY Klinefelter''s syndrome patients. Hum. Reprod. Update 9:319-330, 2003. [PubMed: 12926526]
    ICSI+PGD was performed in 32 cycles of 20 couples. 8 pregnancies were obtained, and five resulted in a delivery. A significant fall occurred in the rate of normal embryos for couples with KS (54%) compared with controls (77%). Moreover, a significantly increased risk of abnormalities was observed for sex chromosomes and autosomes. Hence, a cautious approach is warranted in advising couples with non-mosaic KS.,Kuliev and Verlinsky (2004) state that ''mosaic embryos may originate from the chromosomally abnormal oocytes, as a result of a "trisomy rescue" mechanism during the first mitotic divisions, which renders polar body FISH analysis to have important clinical value for reliable pre-selection of aneuploidy-free embryos for transfer.''
    Index Terms: PGD in KS
  • Kunze J, Frenzel U H, Huttig E, Grosse F R, Wiedemann H R: Klinefelter''s syndrome and incontinentia pigmenti Bloch-Sulzberger. Hum. Genet. 35:237-240, 1977. [PubMed: 844872]
    Patient M.N. (181175) in this report.
    This report gave further support to the hypothesis that dominant sex-linked genes are on the X-chromosome for incontinentia pigmenti Bloch-Sulzberger.
    MIM#: 308300
    Index Terms: Klinefelter syndrome,Incontinentia pigmenti,Bloch-Sulzberger
  • Lai M M R, Spencer J D, Montandon J A, Berry A C: Triphalangeal thumb with delta phalanx in a case of Klinefelter''s syndrome. J. Med. Genet. 28:497-498, 1991. [PMC free article: PMC1016966] [PubMed: 1895323]
    MIM#: 190600
    Index Terms: Triphalangeal thumb
  • Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E.: Klinefelter''s syndrome. Lancet 364:273-283, 2004. [PubMed: 15262106]
    A general review article accompanying a personal account by Robert J Grace also in this issue of Lancet.
  • Lee M W, Stephens R L: Klinefelter''s syndrome and extragonadal germ cell tumors. Cancer 60:1053-1055, 1987. [PubMed: 3038295]
    Schimke R N, Madigan C M, Silver B J, Fabian C J, Stephens R L: Choriocarcinoma, thyrotoxicosis, and the Klinefelter syndrome. Cancer Genet. Cytogenet. 9:1-8, 1983. [PubMed: 6682351]
    Index Terms: Klinefelter syndrome,Tumors ... neoplasia, germ cell
  • Liehr T, Mrasek K, Starke H, Claussen U, Schreiber G.: Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient. Cytogenet. Genome Res. 111: 179-181, 2005. [PubMed: 16103662]
    47,XXY,+dic(9)(:p12->q11.1::q11.1->p11.1:).
    The 34 year old patient was being evaluated for osteoporosis, MR, and weakness of connective tissue.
    Chromosomal Aneuploidy: 9+
    Index Terms: Small supernumerary marker chromosome 9 (sSMC 9)
  • Linden M G, Bender B G, Robinson A.: Genetic counseling for sex chromosome abnormalities. AJMG DOI=10.1002/ajmg.10391; 110:3-10, 2002. [PubMed: 12116264]
    Linden M G, Bender B G.: Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. AJMG DOI=10.1002/ajmg.10394; 110:11-18, 2002. [PubMed: 12116265]
    Salbenblatt J A, Bender B G, Puck M H, Robinson A, Faiman C, Winter J S D: Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Ped. Res. 19:82-86, 1985. [PubMed: 3918293]
    Salbenblatt J A, Bender B G, Puck M H, Robinson A, Webber M L: Development of eight pubertal males with 47,XXY karyotype. Clin. Genet. 20:141-146, 1981. [PubMed: 7307310]
    The expression of this karyotype is variable and individuals with behavioral disorders may represent a maladaptive subgroup rather than the entire population of 47,XXY males.
  • Lowe X, Eskenazi B, Nelson D O, Kidd S, Alme A, Wyrobek A J.: Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. AJHG 69:1046-1054, 2001. [PMC free article: PMC1274351] [PubMed: 11582569]
    38 fathers of KS boys were studied. Their ages were from 24-57.
    The study suggested that older fathers produce higher frequencies of XY sperm and that age effects on sperm aneuploidy are chromosome specific.
  • Mandoki M W, Sumner G S: Klinefelter syndrome: the need for early identification and treatment. Clin. Pediat. 30:161-164, 1991. [PubMed: 2009722]
    The 14 year-old boy presented with severe academic difficulties, emotional disturbance, borderline mental retardation, tall stature, delayed sexual development, small testes, and gynecomastia. The paper documents the effects of psychiatric treatment, modified educational placement, testosterone supplementation, and corrective surgery in adolescence.
    Index Terms: Testosterone treatment
  • Mann B D, Sparkes R S, Kern D H, Morton D L: Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY Klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor. Cancer Genet. Cytogenet. 8:191-196, 1983. [PubMed: 6825066]
    50,XXY,+7,+21,+marker i(21q).
    Index Terms: Carcinoma ... mediastinal embryonal cell
  • Mansfield C, Hopfer S, Marteau T M on behalf of a European concerted action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).: Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. Prenat. Diag. 19:808-812, 1999. [PubMed: 10521836]
    Eight centers, from 6 countries, reporting on 156 pregnancies. 91 terminated (58%), confidence intervals 54%-62%.
    Index Terms: Termination rates
  • Martini E, Geraedts J P M, Liebaers I, Land J A, Capitanio G L, Ramaekers F C S, Hopman A H N.: Constitution of semen samples from XYY and XXY males as analysed by in-situ hybridization. Hum. Reprod. 11:1638-1643, 1996. [PubMed: 8921108]
  • Mavrou A, Syrrou M, Tsenghi C, Agelakis M, Youroukos S, Metaxotou C: Martin-Bell syndrome in Greece, with report of another 47,XXY fragile X patient. AJMG 31:735-739, 1988. [PubMed: 3239562]
  • Merchant P C, Shahani Sh M.: Klinefelter''s syndrome-An immunological disorder. Andrologia 21:476-478, 1989. [PubMed: 2817449]
    A positive response to spermatozoal antigens by LMIT test was obtained in all ten cases studied.
    Index Terms: Immunological disorder
  • Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J.: Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. AJMG 80:330-334, 1998. [PubMed: 9856559]
    55 couples with various sex chromosome polysomy (23=47,XXY; 10=47,XYY; and 12=47,XXX) were counseled in 9 years.
    The overall termination rate was 12.7%. The mean gestational age of the terminated pregnancies was 19.7 weeks.
  • Meurer M, Kuhnle U, Lindl U, Keller U: Androgen receptors in Klinefelter''s syndrome. Lancet 341:1351, 1993. [PubMed: 8098483]
    11 patients were studied.
    All had clinical signs of hypogonadism, and 8 had gynecomastia.
    Mean serum testosterone was decreased, and mean serum FSH was increased.
    Index Terms: Testosterone,FSH
  • Mies R, Fischer H, Pfeiff B, Winkelmann W, Wurz H: Klinefelter''s syndrome and breast cancer. Andrologia 14:317-321, 1982. [PubMed: 7125242]
    Index Terms: Breast ... cancer,Cancer ... breast,Klinefelter syndrome
  • Miyamoto A, Kitawaki K, Koida H, Nagao K: Klinefelter''s syndrome and epileptic psychosis: a case report. Jpn. J. Psychiat. Neurol. 46:61-65, 1992. [PubMed: 1635336]
    Index Terms: Epileptic psychosis
  • Moore C A, Buehler B A, McManus B M, Harmon J P, Mirkin L D, Goldstein D J: Acephalus-Acardia in twins with aneuploidy. AJMG(Suppl.) 3:139-143, 1987. [PubMed: 3130847]
    Index Terms: Acardia,Acephaly
  • Moosani N, Chernos J, Lowry R B, Martin R H.: A 47,XXY fetus resulting from ICSI in a man with an elevated frequency of 24,XY spermatozoa. Hum. Reprod. 14:1137-1138, 1999. [PubMed: 10221255]
    Index Terms: ICSI
  • Muller U, Schneider N R, Marks J F, Kupke K G, Wilson G N: Maternal meisois II nondisjunction in a case of 47,XXY testicular feminization. Hum. Genet. 84:289-292, 1990. [PubMed: 2303249]
    MIM#: 313700
  • Muts-Homsma S J M, Muller H P, Geraedts J P M: Klinefelter''s syndrome and acute non-lymphocytic leukemia. Blut 44:15-20, 1981. [PubMed: 7059687]
    5/51 patients with ANLL were 47,XXY.
    Index Terms: Klinefelter syndrome,Leukemia ... non-lymphocytic acute
  • Nanko S: A case of Klinefelter''s syndrome with high intelligence level. Jpn. J. Hum. Genet. 28:221-222, 1983. [PubMed: 6672366]
    WAIS IQ levels were: full scale-140; verbal-140; performance-134; Patient MI was 24 years old, 184 cm in height; and 48 kg in weight.
    Index Terms: Klinefelter syndrome
  • Netley C, Taylor M J, Moland M.: Event-related potentials (ERPs) and intelligence in neonatally identified 47,XXY males. Clin. Genet. 47:150-154, 1995. [PubMed: 7634538]
    It is suggested that the verbal deficits are the result of unlateralized individual differences in neural cognitive processing.
    Index Terms: ERPs
  • Netley C: Predicting intellectual functioning in 47,XXY boys from characteristics of sibs. Clin. Genet. 32:24-27, 1987. [PubMed: 3621651]
    Netley C: Personality in 47,XXY males during adolescence. Clin. Genet. 39:409-418, 1991. [PubMed: 1863987]
    Netley C: Time of pubertal onset, testosterone levels and intelligence in 47,XXY males. Clin. Genet. 42:31-34, 1992. [PubMed: 1516224]
    The XXY males were more assertive, impulsive and prone to conflict.
    Index Terms: Personality behavior,Testosterone
  • Neuhauser G, Opitz J M: "Studies of malformation syndromes in man XXXX: Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father)." Z. Kinderheilkd. 120:231-242, 1975. [PubMed: 1189520]
    Association of McDonough syndrome - MCA/MR - Multiple Congenital Anomalies/Mental Retardation - and chromosomal anomaly is thought to be coincidental.
    Index Terms: McDonough syndrome
  • Nielsen J, Pelsen B: Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY. Hum. Genet. 77:188-192, 1987. [PubMed: 3653891]
    Nielsen J, Pelsen B, Sorensen K: Follow-up of 30 Klinefelter males treated with testosterone. Clin. Genet. 33:262-269, 1988. [PubMed: 3359683]
    It appears that treatment with testosterone is beneficial.
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism,Klinefelter syndrome
  • Nielsen J, Sorensen A M, Sorensen K: Mental development of unselected children with sex chromosome abnormalities. Hum. Genet. 59:324-332, 1981. [PubMed: 7333586]
  • Nocera G, Dalpra L, Tibiletti M G, Buscaglia M: Five cases of prenatally diagnosed sex chromosome mosaicism. Prenat. Diag. 5:169-174, 1985. [PubMed: 4022940]
    Case 3: 46,XX/47,XXY; 13/16 colonies in 5 independent cultures were examined.
  • Oguma N, Takemoto M, Oda K, Tanaka K, Shigeta C, Sakatani K, Kamada N, Kuramoto A: Chronic myelogenous leukemia and Klinefelter''s syndrome. Eur. J. Haematol. 42:207-208, 1989. [PubMed: 2917636]
    mos46,XY(11.4%)/47,XXY(Blood).&47,XXY(Bone marrow and fibroblasts).
    Ph1 chromosome occurred monoclonally in the XXY cells only.
  • Ogur G, Sengun Z, Arel-Kilic G, De Busscher C, Basaran S, Ozbek U, Ayan I, Sariban E, Vamos E.: Clinical and cytogenetic studies of two cases of Klinefelter syndrome with hereditary retinoblastoma and rhabdomyosarcoma. Cancer Genet. Cytogenet. 89:77-81, 1996. [PubMed: 8689618]
    Index Terms: Rhabdomyosarcoma,Retinoblastoma ... hereditary
  • Okada H, Fujioka H, Tatsumi N, Kanzaki M, Okuda Y, Fujisawa M, Hazama M, Matsumoto O, Gohji K, Arakawa S, Kamidono S.: Klinefelter''s syndrome in the male infertility clinic. Hum. Reprod. 14:946-952, 1999. [PubMed: 10221225]
    Over 12 years, a total of 148 patients with sterility due to azoospermia had KS.
  • Ormerod A D, White M I, McKay E, Johnston A W: Incontinentia pigmenti in a boy with Klinefelter''s syndrome. J. Med. Genet. 24:439-441, 1987. [PMC free article: PMC1050156] [PubMed: 3612722]
    MIM#: 308300
    Index Terms: Klinefelter syndrome
  • Ozkinay F F, Akisu M, Kultursay A M, Oral R, Tansug N, Sapmaz G.: Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. Clin. Genet. 50:145-148, 1996. [PubMed: 8946113]
    The newborn patient had coarse facies, hypertelorism, midface hypoplasia, prominent forehead, postaxial polydactyly and distended abdomen.
    MIM#: 269150
    Index Terms: Schinzel-Giedion syndrome
  • Palermo G D, Schlegel P N, Sills E S, Veeck L L, Zaninovic N, Menendez S, Rosenwaks Z.: Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter''s syndrome. NEJM 338:588-590, 1998. [PubMed: 9475766]
    Cases of two couples were discussed.
    Index Terms: ICSI
  • Palevsky S, Radfar N, Pan S F, Steele M W: A patient with a 47,XXY,5p- Karyotype. Clin. Genet. 16:43-46, 1979. [PubMed: 477014]
    47,XXY,del(5)(p14->p15).,The patient''s head was microcephalic but the anterior and posterior fontanels were both open to one fingertip. There was hypertelorism, and bilateral inner epicanthal folds were noted. There was an anterior skin tag on the left ear. The base of the nose was broad, and there was micrognathia with a high-arched palate. No cat-like cry was noted. The external genitalia were ambiguous with what appeared to be either scrotum, or alternatively a hypertrophic clitoris with fused labia and palpable gonads. It is claimed that this is the first case with such abnormalities.
    Index Terms: Clitoris ... large,Ears ... preauricular skin tags,Epicanthal folds,Fontanelles ... wide open,Genitalia ... ambiguous,Hypertelorism,Microcephaly,Micrognathia,Palate ... high arched,Skin ... tag and/or sinus
  • Palutke W, Chen Y, Chen H: Presence of brightly fluorescent material in testes of XX males. J. Med. Genet. 10:170-174, 1973. [PMC free article: PMC1013010] [PubMed: 4714585]
  • Pandiyan N, Jequier A M.: Mitotic chromosomal anomalies among 1210 infertile men. Hum. Reprod. 11:2604-2608, 1996. [PubMed: 9021359]
    44 individuals had chromosomal aberrations out of 1210 who had abnormal semenograms from a patient population of 1608.
    47,XXY in 18 with Klinefelter syndrome.
    All showed the presence of azoospermia
    ''No single characteristic feature of their semenogram or clinical condition was of any diagnostic value to predict the existence of a chromosomal anomaly.''
    Index Terms: Infertile men
  • Parker E A, Hovanes K, Germak J, Porter F, Merke D P.: Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. AJMG Part A 140A: 2236-2240, 2006. [PubMed: 16906568]
    48,XXY,upd(X)mat upd(6)mat,+mar.ish der(6)(D6Z1+)[30]/47,XXY,upd(X)mat upd(6)mat[20].
    A unique case with three clinical disorders: Klinefelter syndrome, 21-hydroxylase deficiency, and maternal isodisomy.
  • Pascual J, Liano F, Garcia-Villanueva A, Salvador J L, Herrero J A, Ortuno J: Isolated primary aldosteronism in a patient with adrenal carcinoma and XY/XXY mosaic Klinefelter''s syndrome. J. Urol. 144:1454-1456, 1990. [PubMed: 2231941]
    Patient was 65 years old.
    MIM#: 103900
    Index Terms: Isolated primary aldosteronism
  • Perla C, Sanchez R, Alfaro A, Gilsanz A, Dominguez F.: Striatocapsular infarction in a young patient with heterozygous familial hypercholisterolemia and Klinefelter''s syndrome. Med. Clin. (Barcelona, , 1993. [PubMed: 8289524]
    Patient was 34 years old.
    Index Terms: Familial hyperlipidemia
  • Pettenati M J, Berry M N, Hart P S, Rao P N, Lantz P, Rosnes J.: Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism. Prenat. Diag. 19:25-28, 1999. [PubMed: 10073902]
    mos47,XXY/47,XYY/46,XY.,Mosaicism in varying proportions in different tissues was encountered in this prental case ascertained because of MSAFP screening in a 35 year old mother. There was fetal demise.
    Index Terms: FISH and mosaicism
  • Phebus C K, Berg S L: Acute megakaryoblastic leukemia and Klinefelter''s syndrome. Am. J. Ped. Hemat./Oncol. 8:260-262, 1986. [PubMed: 3766915]
    Index Terms: Klinefelter syndrome,Leukemia ... acute megakaryoblastic
  • Porter M E, Gardner H A, DeFeudis P, Endler N S: Verbal deficits in Klinefelter (XXY) adults living in the community. Clin. Genet. 33:246-253, 1988. [PubMed: 3359682]
    The XXY did not appear to be under achievers.
  • Price W H, Steers A J W, Wilson J: Subarachnoid haemorrhage and Klinefelter syndrome. Lancet ii:380, 1982.
    --There may be some inherent weakness of intracranial blood vessels in +++++--.
    Index Terms: Hemorrhage ... subarachniod,Klinefelter syndrome
  • Puck M H: Some considerations bearing on the doctrine of self-fulfilling prophecy in sex chromosome aneuploidy. AJMG 9:129-137, 1981. [PubMed: 7258226]
    Puck M H, Bender B G, Borelli J B, Salbenblatt J A, Robinson A: Parents'' adaptation to early diagnosis of sex chromosome anomalies. AJMG 16:71-79, 1983. [PubMed: 6638073]
    Puck M H, Tennes K, Frankenburg W, Bryant K, Robinson A: Early childhood development of four boys with 47,XXY karyotype. Clin. Genet. 7:8-20, 1975. [PubMed: 1116310]
    Robinson A, Bender B G, Borelli J B, Puck M H, Salbenblatt J A: Sex chromosomal anomalies prospective studies in children. Behavior Genet. 13:321-329, 1983. [PubMed: 6639559]
    Salbenblatt J A, Meyers D C, Bender B G, Linden M G, Robinson A: Gross and fine motor development in 47,XXY and 47,XYY males. Pediatrics 80:240-244, 1987. [PubMed: 3615095]
    Data on four boys, Alan L., Cory N., Bruce M. and David O. indicates that this karyotype "is not necessarily associated with serious intellectual or emotional difficulties in childhood, as long as the environment and genetic constitution are otherwise normal. However, these children may be more vulnerable to an unfavorable milieu."
  • Rajendra B R, Lee M L, Amorosa L, Sciorra L J: A study of mitosis, meiosis, histology, and scanning electron microscopic details of spermatogenesis in an infertile male with probable 46,XY/47,XXY germinal mosaicism. AJMG 10:119-131, 1981. [PubMed: 7315869]
    Index Terms: Sterility ... male
  • Ramesh V, Mountford R, Kingston H M, Kelsey A, Noronha M J, Clarke M A: Occurrence of Duchenne dystrophy in Klinefelter''s syndrome. Arch. Dis. Child. 69:453-454, 1993. [PMC free article: PMC1029558] [PubMed: 8259881]
    MIM#: 310200
    Index Terms: Duchenne muscular dystrophy
  • Ratcliffe S G, Bancroft J, Axworthy D, McLaren W: Klinefelter''s syndrome in adolescence. Arch. Dis. Childhood 57:6-12, 1982. [PMC free article: PMC2863282] [PubMed: 7065696]
    Index Terms: Klinefelter syndrome
  • Reubinoff B E, Abeliovich D, Werner M, Schenker J G, Safran A, Lewin A.: A birth in non-mosaic Klinefelter''s syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum. Reprod. 13:1887-1892, 1998. [PubMed: 9740443]
    Patients 1-7 were studied. Nine attempts of sperm retrieval by fine needle aspiration (FNA) were made. One birth in patient 2.
    Index Terms: Klinefelter syndrome parenting,ICSI in KS
  • Rimoin D L, Borgaonkar D S, Asper S P, Blizzard R M: Chromatin-negative hypogonadism in phenotypic men. Am. J. Med. 44:225-233, 1968. [PubMed: 5635677]
    The problems of differential diagnosis in males with presumptive diagnosis of Klinefelter syndrome but who on laboratory study are found to be chromatin negative are discussed. Each of the three such patients studied here were found to have a different and distinct form of chromatin-negative male hypogonadism -- isolated deficiency of pituitary gonadotropin, del Castillo syndrome and Reifenstein syndrome.
    Index Terms: Del Castillo syndrome,Genitalia ... hypogenitalism,Gonadal dysgenesis ... hypogonadism,Hypogonadism,Klinefelter syndrome,Pituitary ... gonadotropin deficiency,Reifenstein syndrome
  • Rives N, Joly G, Machy A, Sim+¬on N, Leclerc P, Mac+¬ B.: Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype. Mol. Hum. Reprod. 6:107-112, 2000. [PubMed: 10655452]
    One male with 47,XXY and another with mos46,XY/47,XXY karyotype were studied.
    The authors concluded that KS patients with oligozoospermia have an increased risk of both sex chromosome and autosome aneuploidy in their progeny.
    Index Terms: Sperm ... nuclei,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Robinson A, Bender B G, Linden M G: Decisions following the intrauterine diagnosis of sex chromosome aneuploidy. AJMG 34:552-554, 1989. [PubMed: 2624268]
    Robinson A, Bender B G, Linden M G: Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. AJMG 44:365-368, 1992. [PubMed: 1488987]
  • Ross J L, Roeltgen D P, Stefanatos G, Benecke R, Zeger M P D, Kushner H, Ramos P, Elder F, Zinn A R.: Cognitive and motor devlopment during childhood in boys with Klinefelter syndrome. AJMG Part A: DOI=10.1002/ajmg.a.32232, 2008. [PubMed: 18266239]
    50 boys with KS (4.1-17.8 years) were studied.
    There was a significant incraese in left-handedness, specific language, academic, affectional, and motor abilities tended to be impaired.
    ''It is critical that boys with KS are provided with appropriate educational support that targets their learning challendges in school in addition to modifications that address their particular learning style''.
    Index Terms: Cognitive development in boys with KS
  • Sabry M A, Al-Othman A A, Krishna Murthy D S, Gouda S A, Ma''arafi M J, Bastaki L, Al-Awadi S A, Farag T I.: Clustering of major chromosomal abnormalities among azoospermic males in Kuwait: a study of 280 patients. Med. Princip. Pract. 4: 68-74, 1995.
    280 patients were studiedin all. 88 had Klinefelter syndrome.
    Number of mosaics (9 cases) and structural anomalies were also seen in 12 men.
    Index Terms: Azoospermia ... Kuwait
  • Sagi M, Meiner V, Reshef N, Dagan J, Zlotogora J.: Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination. Prenat. Diag. 21:461-465, 2001. [PubMed: 11438950]
  • Santos C B, Hjalgrim H, Goncalves Carneiro F R, Ribeiro M, Boy R T, Goncalves Pimentel M M.: Concurence of fragile X and Klinefelter syndrome: report of a new case of paternal nondisjunction. Ann. Genet. 46:53-55, 2003. [PubMed: 12818531]
    47,XXY
    4 cases of KS were detected among 276 individuals screened for fragile X and one 13 year-old had KS as well as fragile X. The extra X chromosome was of paternal origin with a nondisjunction at MI.
    Index Terms: XXY and fra(X)
  • Sayli B S, Gul D, Cakirbay H: Achondroplasia with XXY karyotype. Clin. Genet. 45:217-218, 1994. [PubMed: 8062443]
    Patient M.S. born in 1969 in Hatay, Turkey.
    The patient had symptoms more of Achondroplasia than of Klinefelter.
    MIM#: 100800
    Index Terms: Achondroplasia
  • Schad C R, Kuffel D G, Wyatt W A, Zinsmeister A R, Jenkins R B, Dewald G W, Jalal S M.: Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis. AJMG 66:187-192, 1996. [PubMed: 8958328]
    Index Terms: FISH ... in Buccal smear analysis
  • Schattner A, Berrebi A: Klinefelter''s syndrome associated with autoimmune disease. J. Roy. Soc. Med. 82:560, 1989. [PMC free article: PMC1292309] [PubMed: 2795581]
  • Schiavi R C, Theilgaard A, Owen D R, White D: Sex chromosome anomalies, hormones, and aggressivity. Arch. Gen. Psychiat. 41:93-97, 1984. [PubMed: 6419709]
  • Schibler D, Brook C G D, Kind H P, Zachmann M, Prader A: Growth and body proportions in 54 boys and men with Klinefelter''s syndrome. Helv. Paediat. Acta 29:325-333, 1974. [PubMed: 4372201]
    The increased height appears to be due to increase in leg length. Abnormal body proportions are not attributable to testosterone deficiency.
    Index Terms: Klinefelter syndrome
  • Schmid M, Guttenbach M, Enders H, Terruhn V: A 47,XXY female with unusual genitalia. Hum. Genet. 90:346-349, 1992. [PubMed: 1483688]
    Patient was 6 years old, had female external genitalia. Gonads determined to be testis by histology.
    Index Terms: XXY female
  • Schnabel R, Hansen S: Karyotype 47,XXY,18p- in a newborn child with holoprosencephaly. Clin. Genet. 23:186-190, 1983. [PubMed: 6851214]
    Index Terms: Holoprosencephaly
  • Schneider M, Forrester S, Crain V, Kimonis V.: A further case of coincidental Prader-Willi and Klinefelter syndromes. AJMG DOI=10.1002/ajmg.a.20462; 126A:213-214, 2004. [PubMed: 15057989]
    Patient SF:
    47,XXY.ish del(15)(q11.2->q12) (SNRPN-,D15S10-)
    Proband had round facies, upslanting almond shaped eyes, epicanthic folds, and thin upper lip.
    Chromosomal Aneuploidy: 15q-
    Index Terms: PWS and KS
  • Schwartzman J S, Zatz M, dos Reis Vasquez L, Ribeiro Gomes R, Koiffmann C P, Fridman C, Guinar+úes Otto P. : Rett syndrome in a boy with a 47,XXY karyotype. AJHG 64:1781-1785, 1999. [PMC free article: PMC1377923] [PubMed: 10330367]
    MIM#: 312750
    Index Terms: Rett syndrome
  • Schwartz S, Leana-Cox J: Fluorescent in situ hybridization (FISH): a new application in the delineation of true vs. pseudomosaicism in prenatal diagnosis. Prenat. Diag. 13:661-670, 1993. [PubMed: 8284285]
    Patient No. 5:
    mos46,XY(67%)/47,XXY(33%)-metaphase analyses.,mos46,XY(55%)/47,XXY(45%)-interphase analysis.
    FISH analysis was used to distinguish between true- and pseudo-mosaicism by allowing interphase and metaphase studies. It is also suggested that there is a multilinear origin of ''in situ'' colonies of cells.
    Index Terms: FISH,Mosaicism,Pseudomosaicism
  • Shaw M P, Eden O B, Grace E: Cytogenetic analysis for leukemia patients. Ped. Hemat. Oncol. 11:229, 1994.
    Shaw M P, Eden O B, Grace E R C, Ellis P M: Acute lymphoblastic leukemia and Klinefelter''s syndrome. Ped. Hemat. Oncol. 9:81-85, 1992. [PubMed: 1558779]
    Index Terms: Leukemia ... acute lymphoblastic
  • Simpson J L, de la Cruz F, Swerdloff R S, Samango-Sprouse C, Skakkebaek N E, Graham J M Jr., Hassold T, Aylstock M, Meyer-Bahlburg H F L, Willard H F, Hall J, Salameh W, Boone K, Staessen C, Geschwind D, Giedd J, Dobs A S, Rogol A, Brinton B, Paulsen C A. Meeting Report.: Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genet. in Med. 5:460-468, 2003. [PubMed: 14614399]
    This type of help was much needed by patient families. It is gratifying to note that data from cross sectional and other studies was included, rather than relying only on cases ascertained in the newborn surveys. Efforts to include such data in defining a phenotype in other sex chromosome (eg 47,XYY) anomalies were not well received in the 1970s by some.
  • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J, on behalf of the Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.: The predictive value of findings of the common aneuploidies, trisomies 13, 18, and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat. Diag. 19:817-826, 1999. [PubMed: 10521838]
    21 cases were studied.
    It was concluded that the highest level of predictive accuracy using cvs can only be achieved if both direct preparation and cell culture are performed. Also, amniocentesis or fetal blood sampling is recommended in case of mosaics.
  • Smyth C M, Bremner W J.: Klinefelter syndrome. Arch. Int. Med. 158:1309-1314, 1998. [PubMed: 9645824]
    A general review and lists the details about the support group for KS: Klinefelter Syndrome and Associates, P O Box 119, Roseville, CA 95678-0119. e-mail:ks47xxy@ix.netcom.com
  • Staessen C, Coonen E, Van Assche E, Tournaye H, Joris H, Devroey P, Van Steirteghem A C, Liebaers I.: Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum. Reprod. 11:1650-1653, 1996. [PubMed: 8921110]
    Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, Liebaers I, Van Steirteghem A.: PGD in 47,XXY Klinefelter''s syndrome patients. Hum. Reprod. Update 9:319-330, 2003. [PubMed: 12926526]
    Tournaye H, Staessen C, Liebaers I, Van Assche E, Devroey P, Bonduelle M, Van Steirteghem A.: Testicular sperm recovery in nine Klinefelter patients. Hum. Reprod. 11:1644-1649, 1996. [PubMed: 8921109]
    Index Terms: Sperm recovery in KS
  • Stemkens D, Broekmans F J, Kastrop P M M, Hochstenbach R, Smith B G, Giltay J C.: Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. AJMG Part A: 143A: 1906-1911, 2007. [PubMed: 17632769]
    W.J. was 30 years old and had infertility problems.
    47,X,i(X)(q10),Y,9ph,Twin J.J.=46,XY,9ph
    Index Terms: IC and MZ twins and KS
  • Suthers G K, Manson J I, Stern L M, Haan E A, Mulley J C: Becker muscular dystrophy (BMD) and Klinefelter''s syndrome: a possible cause of variable expression of BMD within a pedigree. J. Med. Genet. 26:251-254, 1989. [PMC free article: PMC1017298] [PubMed: 2716035]
    A three generation family has been reported.
    MIM#: 310200
  • Sutphen R, Amar M J, Kousseff B G, Toomey K E.: XXY male with X-linked dominant Chondrodysplasia punctata (Happle syndrome). AJMG 57:489-492, 1995. [PubMed: 7677157]
    Patient W.M.
    Death occurred at 31 years of age due to restrictive pulmonary disease secondary to severe kyphoscoliosis. Ht. was 147.5 cm.
    The mother, a sister and her daughter were also affected.
    MIM#: 302950
    Index Terms: Chondrodysplasia punctata (Happle syndrome)
  • Tachdjian G, Frydman N, Morichon-Delvallez N, Le Du A, Fanchin R, Vekemans M, Frydman R.: Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantationor prenatal diagnosis: case report and review. Hum. Reprod. 18:271-275, 2003. [PubMed: 12571161]
    A twin (46,XX and 46,XY) pregnancy is reported after the use of ICSI from a non-mosaic 47,XXY.
  • Tatum W O, IV, Passaro E A, Elia M, Guerrini R, Gieron M, Genton P.: Seizures in Klinefelter''s syndrome. Pediat. Neurol. 19:275-278, 1998. [PubMed: 9830997]
    3 patients are reported.
    Data on 9 previously reported cases are reviewed.
    Index Terms: Seizures in KS
  • Tennes K, Puck M H, Orfanakis D, Robinson A: The early childhood development of 17 boys with sex chromosome anomalies: a prospective study. Pediatrics 59:574-583, 1977. [PubMed: 850597]
    13 boys (numbers 31, 34, 36, 38, 55, 57, 58, 60, 61, 65, 67 and 70), one with mos 46,XY/47,XXY (#63) were followed up for 2 to 5 years. Some were characterized as tall, inactive, poorly organized in motor functions, placid, and delayed in language. These deviations from normal were relatively mild. The boys were not found to be at high risk for grossly abnormal development in early years. Four boys with 47,XYY (numbers 37, 41, 69 and 107) karyotypes were followed; 2 were impulsive at 1 year of age.
    Index Terms: Language deficit ... delayed,Tallness
  • Terzoli G, Simoni G, Lalatta F, Colucci G, Lobbiani A: Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fert. Ster. 58:821-8222, 1992. [PubMed: 1426331]
    The 32 year old man was studied in detail because of infertility.
    Index Terms: Fertility
  • Theilgaard A: Psychological study of XYY and XXY men. BD-OAS XXII(No. 3):277-292, 1986.
  • Thomas N S, Ennis S, Sharp A J, Durkie M, Hassold T J, Collins A R, Jacobs P A.: Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors. Hum. Mol. Genet. 10:243-250, 2001. [PubMed: 11159943]
    95 cases were studied.
    Thomas et al conclude that ''the risk factors associated with both MI and MII non-disjunction appear to be different for virtually every chromosome that has been adequately studied''.
  • Topper E, Dickerman Z, Prager-Lewin R, Kaufman H, Maimon Z, Laron Z: Puberty in 24 patients with Kinefelter''s syndrome. Europ. J. Ped. 139:8-12, 1982. [PubMed: 6816603]
    Index Terms: Klinefelter syndrome
  • Uehara S, Tamura M, Nata M, Kanetake J, Hashiyada M, Terada Y, Yaegashi N, Funato T, Yajima A.: Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome. AJMG 86:107-111, 1999. [PubMed: 10449642]
    Patient was a 30 year old woman with primary amenorrhea and sterility for 4 years. The two Xq arms were identical suggesting UPD. Bilateral gonadectomy was performed. Studies with pubic skin fibroblasts showed no androgen-binding capacity.
    MIM#: 300068
    Index Terms: Androgen insensitivity
  • van den Ouweland A M W, de Vries B B A, Bakker P L G, Deelen W H, de Graaff E, van Hemel J O, Oostra B A, Niermeijer M F, Halley D J J: DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. AJMG 51:482-485, 1994. [PubMed: 7943024]
    Patient 2:
    47,XXY.
    This index patient had a long face with a broad forehead, large ears, and flat feet.
  • Varrela J: Effects of X chromosome on size and shape of body: an anthropometric investigation in 47,XXY males. Am. J. Phys. Anthro. 65:233-242, 1984. [PubMed: 6540997]
    Varrela J, Alvesalo L: Taurodontism in 47,XXY males: an effect of the extra X chromosome on root development. J. Dent. Res. 67:501-502, 1988. [PubMed: 11039066]
    Index Terms: Taurodontism
  • Vasudevan P C, Quarell O W J.: Prader-Willi and Klinefelter syndrome: a coincidence or not? Clin. Dysmorphology 16: 127-129, 2007. [PubMed: 17351360]
    47,XXY/PWS
    The extra X chromosome was found to be of paternal origin. The 2 month old was diagnosed to have PWS caused by maternal heterodisomy of chromosome 15.
    Index Terms: KS and PWS
  • Velagalet G V N, Kumar A, Lockhart L H, Matalon R.: Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome. Ann. Genet. 43:105-107, 2000. [PubMed: 10998453]
    Patient was 40 years old.
    47,XXy.ish del(22)(q11.2q11.2)(D22S553,D22S609,D22S942-).
    MIM#: 169100
    Chromosomal Aneuploidy: 22q-
    Index Terms: Patent ductus arteriosus
  • Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G, Hatzaki A.: Rare XXY/XX mosaicism in a phenotypic male with Klinefeleter syndrome: case report. Europ. J. Med. Genet. 49: 331-337, 2006. [PubMed: 16829354]
    Blood=mos46,XX[80]/47,XXY[20].,Cultured skin=46,XX[50]/47,XXY[50].,Cultured testicular tissue=47,XXY.
    The patient was 29 years old with male phenotype and an indication of infertility.
  • Verloes A, Guidi O, Frederic J, Lambotte C: Noonan and Klinefelter syndromes in a child. AJMG 27:727-728, 1987. [PubMed: 3631144]
    Patient was 5 years old.
    47,XXY.
    MIM#: 163950
    Index Terms: Klinefelter syndrome
  • Vidal F, Navarro J, Templado C, Brusadin S, Egozcue J: Synaptonemal complex studies in a mosaic 46,XY/47,XXY male. Hum. Genet. 66:306-308, 1984. [PubMed: 6724584]
  • Volkl T M K, Langer T, Aigner T, Greess H, Beck J D, Rauch A M, Dorr H G.: Klinefelter syndrome and mediastinal germ cell tumors. AJMG DOI=10.1002/ajmg.a.31103; 140A: 471-481, 2006. [PubMed: 16470792]
    47,XXY
    The 8.5 year old presented with precocious puberty. After surgery, 12 years old, he was attending a normal junior high school.
    Index Terms: Mediastinal germ cell tumors (M-GCT) in KS
  • von Muhlendahl K E, Heinrich U: Sexual precocity in Klinefelter syndrome: report on two new cases with idiopathic central precocious puberty. Europ. J. Ped. 153:322-324, 1994. [PubMed: 8033919]
    Index Terms: Precocious puberty
  • Wahrman J, Berant M, Jacobs J, Aviad I, Ben-hur N: The oral-facial-digital syndrome: A male-lethal condition in a boy with 47/XXY chromosomes. Pediatrics 37:812-821, 1966. [PubMed: 5295804]
    MIM#: 311200
    Index Terms: Oral-facial-digital syndrome
  • Wiedeking C, Lake C R, Ziegler M, Muske E, Jorgensen G: Plasma Noradrenalin and Dopamine-Beta-Hydroxylase during Behavioral Testing of Sexually Deviant XYY Males. Hum. Genet. 37:243-247, 1977. [PubMed: 885542]
    One XYY and one XXY patients (both rapists and murders) were studied under resting conditions and during exertional and emotional stress. Disturbed NA function does not seem to be the cause of the behavior disorder of the XYY and XXY patients.
  • Wit J M, Quartero A O, Bax N M A, Huber J: A phenotypic male with true hermaphroditism and a 46,XX/46,XY/47,XXY phenotype. Clin. Genet. 31:243-248, 1987. [PubMed: 3594931]
    Patient was referred at age 14yrs.
    46,XX(54%)/46,XY(16%)/47,XXY(30%).
    Index Terms: Hermaphrodism ... true
  • Woods C G, Noble J, Falconer A R.: A study of brothers with Klinefelter syndrome. J. Med. Genet. 34:702, 1997. [PMC free article: PMC1051044] [PubMed: 9279771]
  • Wysocka B, Denis A, Limon J, Izycka E, Roszkiewicz A, Drozynska E, Jassem J, Imielinski B, Stoba C.: Klinefelter syndrome and neoplasia. Presentation of three new cases. Cancer Genet. Cytogenet. 92:85-86, 1996. [PubMed: 8956879]
    Case 1 (K.W.); Case 2 (W.P.); Case 3 (B.K.):
    Case 2:mos46,XY/47,XXY and the other two cases were 47,XXY.
    W.P. had cerebellar tumor and the other two teratoma.
    Index Terms: Neoplasia
  • Yamaguchi T, Kitada S, Osada Y: Chromosomal anomalies in cryptorchidism and hypospadias. Urol. Internat. 47:60-63, 1991. [PubMed: 1686509]
    Cases 1 and 5.
    Index Terms: Cryptorchidism, (see also Testes ... undescended),Hypospadias
  • Yeh P C, Kipp M A.: A case of Moebius syndrome in association with Klinefelter syndrome. Ophthal. Genet. 23:185-189, 2002. [PubMed: 12324877]
    An interesting cooccurrence of these two rare condiions is reported in an infant (10 months old).
    MIM#: 157900
    Index Terms: Moebius syndrome
  • Yenamandra A, Zhou X, Trinchitella L, Susin M, Sastry S, Mehta L. : Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome. AJMG 77:281-284, 1998. [PubMed: 9600736]
    47,XXYc,t(X;1)(p11.2;q21).
    The patient was 10 years old with RCC.
    MIM#: 193300
    Index Terms: Renal cell carcinoma in KS
  • Zamora L, Espinet B, Salido M, Sole F, Ligorria C, Florensa L.: Report of 46,XX/46,XY/47,XXY/48,XXYY mosaicism in an adult phenotypic male. AJMG 10.1002/ajmg.10561; 111:215-217, 2002. [PubMed: 12210355]
    46,XX[17]/47,XXY[18],.ish 46,XX[18]/46,XY[56]/47,XXY[422]/48,XXYY[4].
    The 55 year old patient, a product of first cousin union, was referred for gynecomastia of 8 years'' duration that became more exaggerated in the last 3-4 years.
  • Zuffardi O, Gargantini L, Lambiase S, Lo Curto F, Maraschio P, Ford C E: Presumptive mosaic origin of an XX/XY female with ambiguous genitalia. J. Med. Genet. 24:177-180, 1987. [PMC free article: PMC1049955] [PubMed: 3573003]
    It is hypothesized that the zygote was XXY and gave rise to XX and XY cell lines.
    mos46,XX/46,XY.
    Index Terms: Genitalia ... ambiguous
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106081
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...