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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-.

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

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47,XXX

  • Alvesalo L, Tammisalo E, Therman E: 47,XXX females, sex chromosomes, and tooth crown structure. Hum. Genet. 77:345-348, 1987. [PubMed: 3692479]
    Varrela J, Alvesalo L: Taurodontism in females with extra X chromosomes. J. Craniofac. Genet. Develop. Biol. 9:129-133, 1989. [PubMed: 2794003]
    MIM#: 272700
    Index Terms: Taurodontism
  • Anneren G, Andersson M, Page D C, Brown L G, Berg M, Lackgren G, Gustavson K H, de la Chapelle A: An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction. AJHG 41:594-604, 1987. [PMC free article: PMC1684314] [PubMed: 2889356]
    Patient was 5 years old and was seen at age 2 years.
    47,XX,t(X;Y)(p22;p11).
  • Autio-Harmainen H, Rapola Ni, Aula P: Fetal gonadal histology in XXXXY, XYY and XXX syndromes. Clin. Genet. 18:1-5, 1980. [PubMed: 7418248]
    Fetuses showed no gross malformations.
  • Barkai G, Reznik H, Ries L, Chaki R, Goldman B: High serum levels of beta subunit human chorionic gonadotropin in trisomy X. Prenat. Diag. 11:922-923, 1991. [PubMed: 1725212]
    A high beta human chorionic gondatropin level was found in a mother who had a triple X fetus.
    Index Terms: Beta human chorionic gonadotropin
  • Barr M L, Sergovich F R, Carr D H, Shaver E L: The triple-X female: An appraisal based on a study of 12 cases and a review of the literature. Canad. Med. Assoc. J. 101:247-258, 1969. [PMC free article: PMC1946229] [PubMed: 5812107]
  • 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]
    Salbenblatt J A, Meyers D C, Bender B G, Linden M G, Robinson A: Gross and fine motor development in 45,X and 47,XXX girls. Pediatrics 84:678-682, 1989. [PubMed: 2780130]
    Index Terms: Language deficit
  • Bigazzi C, Galieni P, Scarinci R, Vivarelli R, Bucalossi A, Biancolini G, Falbo R, Vessichelli F, Dispensa E: 11q- and constitutional X trisomy in a patient with M5B acute non-lymphocytic leukemia. Haematologica 78:185-186, 1993. [PubMed: 8375750]
    BM:mos46,XX,11q-[2]/47,XXX,11q-[45].,Blood, PHA stimulated:mos46,XX[9]/47,XXX[29]/49,XXXXX[1]/,50,XXXXXX[1].
    Index Terms: Acute non-lymphocytic leukemia
  • Bigozzi V, Simoni G, Montali E, Dalpra L, Rossella F, Piazzini M, Borghi A: 47,XXX chromosome constitution in a male. J. Med. Genet. 18:62-66, 1980. [PMC free article: PMC1048493] [PubMed: 7189218]
    Scherer G, Schempp W, Fraccaro M, Bausch E, Bigozzi V, Maraschio P, Montali E, Simoni G, Wolf U: Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction. Hum. Genet. 81:247-251, 1989. [PubMed: 2921034]
    First reported case of XXX male. An 18 year old male with testicular hypoplasia was examined. The father and mother were 31 and 34 years old repectively at the probands birth. Hypotheses presented to explain maleness without an obvious Y.
    In situ hybridization studies showed that the Y-specific DNA sequences were localized on Xp22.3.
    Index Terms: Testes ... hypoplasia (tic) (small)
  • 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]
    16 fetuses were diagnosed, main indication was advanced maternal age (60%). The termination rate was 25% and declined in later years.
  • 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]
    Patient B:
    mos47,XXX[17]/46,XX[13].
    The patient was 5 years old with PWS.
    It is hypothesized that the extra X chromosome arose post-zygotically and nondisjunction of chromosome 15 arose by a meiotic error.
    Index Terms: Prader-Willi syndrome
  • Cardoso D, Tuna M, Abrantes M, Goncalves dos Santos H, Justo Da Silva L.: Congenital chylothorax associated with trisomy X. Europ. J. Pediat. 160:743, 2001. [PubMed: 11795685]
    MIM#: 603523
    Index Terms: Congenital chylothorax
  • Christian S M, Koehn D, Pillay R, MacDougall A, Wilson R D.: Parental decision following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat. Diag. 20:37-40, 2000. [PubMed: 10701849]
    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]
    It would be of interest to visit these families, ie those who continued their pregnancises, and have a follow-up on the SCA patients and their parent''s reaction to the decisions they made decades ago!
  • Cohen M M, Charrow J, Nadler H L: Prenatal monitoring and genetic counseling in a 47,XXX female with the oro-facial digital syndrome-Type 1. AJHG 33:649-650, 1981. [PMC free article: PMC1685096] [PubMed: 7258190]
    Pregnancy resulted in a normal female 46,XX infant with no stigmata of OFD-1.
    Index Terms: Oral-facial-digital syndrome
  • Corssmit E P M, Seminara S B, Pitteloud N, Fliers E.:
    Index Terms: Kallmann syndrome
  • De Veciana M, Major C A, Porto M: Prediction of an abnormal karyotype in fetuses with omphalocele Prenat. Diag. 14:487-492, 1994. [PubMed: 7524058]
    40 consecutive fetuses were studied.
    Index Terms: Omphalocele
  • 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. In the case of girls differences were not statistically significant.
    Index Terms: Criminality
  • Fryns J P, Kleczkowska A, Petit P, Van Den Berghe H: X-chromosome polysomy in the female: personal experience and review of the literature. Clin. Genet. 23:341-349, 1983. [PubMed: 6342877]
  • Fuster C, Templado C, Miro R, Barrios L, Egozcue J: Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. Hum. Genet. 78:293, 1988. [PubMed: 3346020]
  • Gollop T R, Naccache N F, de Campos I M A: Follow up of a 45,X/46,XX/47,XXX mosaicism case diagnosed by chorionic villus sampling. Brazil J. Genet. 15:980-981, 1992.
    Patient MFP had amniocentesis because she was 37 years old.
    cvs-mos45,X(67%)/46,XX(18%)/47,XXX(15%).&Amniotic fluid-47,XXX only.&Peripheral blood after birth-mos45,X(4%)/47,XXX(96%).
    At 15 days the girl was normal.
  • 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. #152, #1115, #10,565, #11,407 and #13,003, and one mixoploid 45,X/46,XX/47,XXX #9342 are described.
  • Guzman-Toledano R, Ayala A, Zarate A, Jimenez M: Triple X female and Turner''s syndrome. J. Med. Genet. 13:516-517, 1976. [PMC free article: PMC1013482] [PubMed: 1018311]
    A 47,XXX female gave birth to 45,X female. Reported to be first such association.
    Index Terms: Turner syndrome
  • Hammer S, Dorrani N, Hartiala J, Stein S, Schanen N C.: Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. AJMG DOI=10.1002/ajmg.a.20320; 122A:223-226, 2003. [PubMed: 12966522]
    The patient was 5 years old and being evaluated for developmental delay.
    Index Terms: Rett syndrome (RTT),MECP2
  • Haverty C E, Lin A E, Simpson E, Spence M A, Martin R A.: 47,XXX associated with malformations. AJMG DOI=10.1002/ajmg.a.20393; 125A:108-111, 2003 and 2004. [PubMed: 14755479]
    Linden M G, Bender B G, Harmon R J, Mrazek D A, Robinson A: 47,XXX: what is the prognosis? Pediatrics 82:619-630, 1988. [PubMed: 2459656]
    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.: Reply to correspondence from Haverty et al. - "47,XXX assocaited with major malformations" AJMG DOI=10.1002/ajmg.a.20395; 125A:112, 2003 and 2004.
    Tennes K, Puck M H, Bryant K, Frankenburg W, Robinson A: A developmental study of girls with trisomy X. AJHG 27:71-80, 1975. [PMC free article: PMC1762786] [PubMed: 1155452]
    Eleven subjects have been followed from birth to adulthood. Some guidelines have been provided for counseling of parents.
    Haverty et al state '' We would temper the authors'' (implying Linden et al) reassurance that "the phenotype of 47,XXX does not involve physical anomalies".
  • Hayashi M, Hayakawa K, Suzuki F, Sugita K, Satoh J, Morimatsu Y: A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47,XXX. Brain Develop. 14:63-67, 1992. [PubMed: 1590530]
    MIM#: 216400
    Index Terms: Cockayne syndrome
  • Hernandez P, Hilty G R, Borgaonkar D S: A 47,XXX female with unusual phenotype. Del. Med. J. 55:661-663, 1983. [PubMed: 6653845]
    The infant appeared to have Goldenhar syndrome.
    Index Terms: Goldenhar sequence
  • Hogge W A, Vick D J, Schnatterly P A, MacMillan R H: Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. AJMG 33:242-243, 1989. [PubMed: 2669483]
    Index Terms: Bilateral renal agenesis,Mullerian ... anomaly
  • 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.
  • Hood O J, Hartwell E A, Shattuck K E, Rosenburg H S: Multiple congenital anomalies associated with a 47,XXX chromosome constitution. AJMG 36:73-75, 1990. [PubMed: 2333909]
  • Itu M, Neelam T, Ammini A C, Kucheria K: Primary amenorrhea in a triple X female. Aust. N. Z. J. Obst. Gynecol. 30:386-388, 1990. [PubMed: 2082900]
    Index Terms: Amenorrhea
  • Jacobs P A, Baikie A G, Court Brown W M, MacGregor T N, MacLean N, Harnden D G: Evidence for the existence of the human ''super female.'' Lancet 2:423-425, 1959. [PubMed: 14406377]
    47,XXX was first described in this report.
  • Jaspers M T, Witkop C J: Taurodontism, an isolated trait associated with syndromes and X-chromosomal aneuploidy. AJHG 32:396-413, 1980. [PMC free article: PMC1686063] [PubMed: 6992564]
  • Kim E S, Gross T L.: Prenatal ultrasound detection of a congenital epulis in a triple X female fetus: a case report. Prenat. Diag. 19:774-776, 1999. [PubMed: 10451528]
    Ultrasound examination at 21 and 28 weeks of pregnancy showed normal facial anatomy, suggesting accelerated tumor growth during the third trimester. Congenital epulis was noted at 33 weeks. Post natal surgery was performed. A rare combination of events! The patient had polydactyly of the left hand with a simple supernumerary sixth digit.
    Index Terms: Congenital epulis
  • Klinger H P: Personal communication, 1973.
  • Kohn G, Cohen M M, Beyth Y, Ornoy A: Prenatal diagnosis and gondal findings in X/XXX mosaicism. J. Med. Genet. 14:120-123, 1977. [PMC free article: PMC1013526] [PubMed: 856232]
    It is pointed out that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from oogenesis.
  • 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]
  • Kurosawa S, Kimura O, Sagawa A: Systemic lupus erythematosus in a patient with the 47,XXX karyotype. Arthr. Rheum. 34:371-372, 1991. [PubMed: 2003860]
    MIM#: 152700
  • Leal C A, Ayala-Madrigal M L, Figuera L E, Medina C.: Histone H4 acetylation analyses in patients with polysomy X: implications for the mechanism of X inactivation. Hum. Genet. 103:29-33, 1998. [PubMed: 9737772]
    One patient with 47,XXX; 48,XXXY; and 49,XXXXY were studied for the pattern of X inactivation by analysis of histone H4 acetylation.
    Different patterns of acetylation were observed at lysine 16. This may explain the phenotypic differences in polysomy X individuals even tough only one of X chromosomes is ''active''.
    Index Terms: Histone H4 acetylation,X inactivation
  • Lester T, de Alwis M, Clark P A, Jones A M, Katz F, Levinsky R J, Kinnon C.: Trisomy X in a female member of a family with X-linked severe combined immunodeficiency: implications for carrier diagnosis. J. Med. Genet. 31:717-720, 1994. [PMC free article: PMC1050084] [PubMed: 7815443]
    20 women with Turner syndrome mean age 25.7 +/-6.0 were studied and compared with 15 GH-deficient women.
    MIM#: 312863
    Index Terms: Combined immunodeficiency ... severe
  • Levy D L, Holland J B: 47,XXX karyotype obtained by amniocentesis. Obst. Gynecol. 48:233-234, 1976. [PubMed: 133305]
    The pregnancy was terminated after genetic counseling. However, it is stated that "The decision of the parents and the geneticist.....is not meant to set a precedent....".
  • Lin H J, Ndiforchu F, Patell S: Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients. AJMG 45:761-763, 1993. [PubMed: 8456857]
    Index Terms: Cloaca
  • 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]
    45 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''.
  • May K M, Jacobs P A, Lee M, Ratcliffe S G, Robinson A, Nielsen J, Hassold T J: The parental origin of the extra X chromosome in 47,XXX females. AJHG 46:754-761, 1990. [PMC free article: PMC1683670] [PubMed: 2316522]
    Errors in oogenesis, largely meiosis I, accounted for 26/28 of the cases. Advanced maternal age was associated with the error. The results suggest that increased recombination near the centromere may play a role.
    Index Terms: Nondisjunction
  • Michalak D P, Zacur H A, Rock J A, Woodruff J D.: Autoimmunity in a patient with 47,XXX karyotype. Obstet. Gynecol. 62:667-669, 1983. [PubMed: 6621958]
    Index Terms: Autoimmunity
  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient C95/479:
    She was 35 years old.
    Index Terms: ICSI
  • Mueller-Heubach E, Garver K L, Ciocco A M: Prenatal diagnosis of trisomy X: its implications for genetic counselling. Am. J. Obst. Gynecol. 127:211-212, 1977. [PubMed: 831509]
    The 43-year-old woman, who had psychiatric problems as well, elected to abort. Amniocentesis was performed because of advanced maternal age. The problem of genetic counseling in this difficult situation is discussed.
    Index Terms: Psychiatric problems
  • Muller U, Latt S A, Donlon T A: Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. AJMG 28:393-401, 1987. [PubMed: 2827475]
    Patient to be reported by Annerem et al.
  • Neri G: A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X individuals. AJMG 18:357-364, 1984. [PubMed: 6465205]
  • Nielsen J, Sorensen A M, Sorensen K: Mental development of unselected children with sex chromosome abnormalities. Hum. Genet. 59:324-332, 1981. [PubMed: 7333586]
  • Nucaro A L, Cao A, Faedda A, Crisponi G.: Trisomy 8 mosaicism in a patient born to a mother with 47,XXX. AJMG DOI=10.1002/ajmg.a.20086, 2003. [PubMed: 12707966]
    mos47,XX,+8[80%]/46,XX[20%].,Mother=47,XXX.
    The patient had round face, hypertelorism, large ears, micrognathia, clinodactyly, camptodactyly, deep palmer and plantar creases, cryptorchidism, hydronephrosis, cardiovascular anomalies, agenesis of the corpus callosum, and MR.
  • Otter M, Schrander-Stumpel C T R M, Curfs L M G.: Triple X syndrome: a review of the literature. Europ. J. Hum. Genet. 18: 265-271, 2010. [PMC free article: PMC2987225] [PubMed: 19568271]
    With all the hoopla about unbiased sampling and followup of cases thus acsertained, this review does state that many of these individuals do have problems!
  • Panasiuk B, Midro A T, Zadrozna-Tolwinska B.: Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother. Clin. Genet. 52:120-125, 1997. [PubMed: 9298748]
    Patient S.J. (IV-20 in the pedigree). Mother is III-8.
    MIM#: 312750
    Index Terms: Rett syndrome
  • Pennington B, Puck M H, Robinson A: Language and cognitive development in 47,XXX females followed since birth. Behavior Genet. 10:31-41, 1980. [PubMed: 7425996]
    Eleven 47,XXX females were evaluated at 4 yrs and 8 yrs of age on WPPSI and WISC and were not found to have a specifically nonverbal or verbal cognitive effect.
  • 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]
    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]
  • Puck M H: Some considerations bearing on the doctrine of self-fulfilling prophecy in sex chromosome aneuploidy. AJMG 9:129-137, 1981. [PubMed: 7258226]
  • Ratcliffe S G, Pan H, McKie M: The growth of XXX females: population based studies. Ann. Hum. Biol. 21:57-66, 1994. [PubMed: 8147577]
  • Reish O, Berryman T, Cunningham T R, Sher C, Oetting W S.: Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX. Chromosome Res. 12:125-132, 2004. [PubMed: 15053482]
    Two sisters II-1 and II-2: 47,XXX.
    II-1 was referred for evaluation, at age 16, for developmental delay. Her sister II-1 was detected during prenatal diagnosis because of advanced maternal age of the mother (38) and an abnormal triple test.
    The extra X chromosome in both of them was maternally derived but were nonhomologous. A reduced recombination of X chromosome in both, suggests a possible maternal defect leading to an erratic recombination at MI and a subsequent MII non-disjunction in an age independent mode.
  • Rinaldi A, Velivasakis M, Latte B, Filippi G, Siniscalco M: Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and Deutan). AJHG 30:339-345, 1978. [PMC free article: PMC1685610] [PubMed: 309723]
  • 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]
    4/4 terminated
  • Same entry as in +21 (Scott et al, 1996).
  • 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]
    20 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.
  • Spear G S, Porto M: 47,XXX chromosome constitution, ovarian dysgenesis, and genito-urinary malformation. AJMG 29:511-515, 1988. [PubMed: 3376994]
    Index Terms: Ovarian ... dysgenesis
  • Stochholm K, Juul S, Gravholt C H.: Mortality and incidence in women with 47,XXX and variants. AJMG PartA: 152A: 367-372, 2010. [PubMed: 20101696]
    136 women were diagnosed during 1963-2008 giving an incidence of 10.7/100,000 births.
    Age at diagnosis ranged from 0 to 73 years, delay in more than half of them! Mortality was significantly increased with a hazard ratio of 2.5 (1.6-3.9). A generally increased mortality was identified in all informative chapters, significantly increased mortality in cardiovascular diseases, congenital defects, and unspecified diseases.
    All of the findings are quite impressive: In the ''60s and ''70s there were considerable and significant differences of opinion among cytogeneticists about the ''phenotype'' of individuals with common sex chromosome aneuploidy. Some of us thought that these individuals ''were at risk'' while others firmly believed that ''unbiased'' samples were a requirement.
    Index Terms: Survival of 47,XXX females in Denmark
  • 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 A J, Schoemaker M J, Higgins C D, Wright A F, Jacobs P A.: Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain. Hum. Genet. 118:255-260, 2005. [PubMed: 16151857]
    The authors found increased mortality from cardiovascular disease.
  • Telfer M A, Richardson C E, Helmken J, Smith G F: Divergent phenotypes among 48,XXXX and 47,XXX females. AJHG 22:326-335, 1970. [PMC free article: PMC1706538] [PubMed: 4392739]
  • Tsuang M T, Miller J R, De Bault L E: Klinefelter''s syndrome and maternal XX/XXX mosaics. J. Med. Genet. 12:114, 1975. [PMC free article: PMC1013244] [PubMed: 1121018]
    Index Terms: Klinefelter syndrome
  • Verma R S, Conte R A, Mathews T, Luke S: Monozygotic twinning in a female with triple X \47,XXX\. Gynecol. Obstet. Invest. 37:279-280, 1994. [PubMed: 8050736]
    Index Terms: Twins ... monozygotic
  • Verp M S, Bombard A T, Simpson J L, Elias S: Parental decision following prenatal diagnosis of fetal chromosome abnormality. AJMG 29:613-622, 1988. [PubMed: 3377004]
  • Villanueva A L, Rebar R W: Triple-X syndrome and premature ovarian failure. Obst. Gynecol. 62:70s-73s, 1983. [PubMed: 6410314]
    Index Terms: Klinefelter syndrome
  • Wallerstein R, Musen E, McCarrier J, Aisenberg J, Chartoff A, Hutcheon R G, Tepperberg J, Pappenhausen P, Griffin S.: Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted? AJMG DOI=10.1002/ajmg.a.20362; 125A:106-107, 2003 and 2004. [PubMed: 14755478]
    Patient 1=Blood-47,XXX[50].,Buccal cells-ish 47,XXX[69]/45,X[26]/46,XX[9].
    At age 7 years 6 months, a height of 3rd centile, broad hands and broad neck suggested a diagnosis of TS.
    Patient 2=Blood-47,XXX[50].,Skin-47,XXX[3]/45,X[56]/46,XX[49].
    At 4 years of age, height of 3rd centile, a trianguler shaped face, a wide nasal bridge, and short fifth finger bilaterally suggested a diagnosis of TS.
    Index Terms: Mosaicism in TS
  • Woodhouse W J, Holland A J, McLean G, Reveley A M.: The association between triple X and psychosis. Brit. J. Psychiat. 160:554-557, 1992. [PubMed: 1571760]
    Case A, was a single 20yo woman. Case B, was a divorcee and 40yo.
    Index Terms: Psychosis
  • Zhao X X, Suzumori K, Sato T.: Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage. Prenat. Diag. 23:549-551, 2003. [PubMed: 12868080]
    Index Terms: Endocervical lavage
  • Zizka J, Balicek P, Nielsen J: XXYY son of a triple-X mother. Humangenetik 26:159-160, 1975. [PubMed: 1112607]
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105923
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