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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-.

Cover of Chromosomal Variation in Man

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

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  • Aldridge J, Kunkel L M, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt S A: A strategy to reveal high-frequency RFLPs along the human X chromosome. AJHG 36:546-564, 1984. [PMC free article: PMC1684472] [PubMed: 6328976]
    Index Terms: Restriction Fragment Length Polymorphism (RFLP)
    No band
  • Alvarez-Nava F, Martínez C, González S, Soto M, Borjas L, Rojas A.: FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue. Clin. Genet. 55:356-361, 1999. [PubMed: 10422807]
    mos45,X[42%]/46,X,i(Xq)[58%]
    Patient was 13 years old with short stature, absence of menses, and signs of external virilization.
    There was no evidence of Y-specific sequences.
    Aberration: Isochromosome
  • Baranovskaya L I, Egolina N A, Zakharov A F, Tsvetkova T G: Isochromosome X in man: Different DNA replication patterns in the long arms. Hum. Genet. 33:55-60, 1976. [PubMed: 939557]
    Baranovskaya L I, Zakharov A F: H3-deoxycytidine incorporation into X-chromosomes differentially condensed under 5-bromodeoxyuridine treatment in cases of 49,XXXXY, 48,XXXX, 47,XXX, 46,X,i(Xq) and 45,X/46,X,i(Xq). Humangenetik 23:131-136, 1974. [PubMed: 4852338]
    46,X,i(Xq).,45,X/46,X,i(Xq).,The long arms of the i(Xq) were asymmetrical with respect to chronology of DNA synthesis.
    Aberration: Isochromosome
    No band
  • Baranovskaya L I: The differentiation along structurally abnormal human X-chromosomes. Cytologia (USSR) 15:1122-1129, 1973.
    Usefulness of the technique of 5BrdU induced chromosome differentiation is demonstrated by having identified 3 cases of isochromsome X and one p or q deletion of X.
    Aberration: IC,TD
    No band
  • Bernstein R, Dawson B, Kohl R, Jenkins T: "X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci." J. Med. Genet. 16:254-262, 1979. [PMC free article: PMC1012665] [PubMed: 290816]
    45,X,-X,-15,+t(X;15).,In a 4 year old girl, the translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm.
    Aberration: Whole-arm translocations
    No band
  • Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.: FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. AJMG 68:99-104, 1997. [PubMed: 8986287]
    Case 2:
    47,XX,+r(X)(ish)
    The patient was 16 years old.
    MIM#: 176270
    Index Terms: Prader-Willi syndrome
    No band
  • Biemont M C, Laurent C, Couturier J, Dutrillaux B: Chronology of sexual chromosome bands replication from lymphocytes of normal and abnormal subjects. Ann. Genet. 21:133-141, 1978. [PubMed: 315188]
    Case No. 13.
    46,X,i(Xq).
    Aberration: Isochromosome
    No band
  • Borgaonkar D S: Cytogenet. Cell Genet. 12:372-373, 1974,1973.
    46,X,i(Xq).
    Patient No. 4040 in this laboratory.
    Aberration: Isochromosome
    No band
  • Callen D F, Mulley J C, Baker E G, Sutherland G R: Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Hum. Genet. 77:236-240, 1987. [PubMed: 3479386]
    Aberration: Isochromosome
    No band
  • Carothers A D, De Mey R, Daker M, Boyd E, Connor M, Ellis P M, Stevenson D: An aetiological study of isochromosome-X Turner''s syndrome. Clin. Genet. 36:53-58, 1989. [PubMed: 2766563]
    Aberration: Isochromosome
    No band
  • Caspersson T, Lindsten J, Zech L: The nature of structural X chromosome aberrations in Turner''s syndrome as revealed by quinacrine mustard fluorescence analysis. Hereditas 66:287-292, 1970. [PubMed: 5525826]
    45,X/46,X,i(Xq).&46,X,?i(Xp).
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M.: Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat. Diag. 19:1099-1103, 1999. [PubMed: 10590424]
    A new marker, X22, has been used in the QF-PCR assays to detect X and Y anomalies along with HPRT and an X-linked marker P39.
  • Cohen A, Lavagetto A, Romano C: Ullrich-Turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major. AJMG 44:11-12, 1992. [PubMed: 1519640]
    Patient B.C. was 10 1/2 years old.
    45,X/46,X,i(Xq).
    Patient was evaluated for short stature. She also had agenesis of the breast, nipple, and pectoralis major with almost complete absence of hair follicles in the ipsilateral axilla on the left side.
    This appears to be the first description of Poland anomaly in UTS.
    Aberration: Isochromosome
    MIM#: 173800
    Index Terms: Unilateral agenesis of breast,Pectoralis major,Poland anomaly
    No band
  • Crocker M: Rearrangements of the X chromosome and Turner syndrome. Hum. Genet. 90:185-186, 1992. [PubMed: 1427778]
    Therman E, Laxova R, Susman B: The critical region on the human Xq. Hum. Genet. 85:455-461, 1990. [PubMed: 2227929]
    Therman E, Susman B: The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum. Genet. 85:175-183, 1990. [PubMed: 2370045]
    It is hypothesized that the region between the centromere and p11 always stays active in a normal inactive X.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-,Xq-
    Index Terms: X inactivation,Critical region of the X chromosome
    No band
  • Davidenkova E F, Verlinskaya D K, Mashkova M V: Structural aberrations of the X chromosome in man. Hum. Genet. 41:269-279, 1978. [PubMed: 649155]
    69 women, out of 209 patients with Shereshevsky-Turner syndrome, had various types of structural anomalies.
    Index Terms: Shereshevsky syndrome,Turner syndrome
    No band
  • de la Chapelle A, Stenstrand K: Dicentric human X chromosomes. Hereditas 76:259-268, 1974. [PubMed: 4135824]
    Four patients with i(Xq) were studied by the Q, G and C banding techniques. Two of these abnormal X chromosomes were dicentric and the other two were monocentric. Three of these four patients were mosaics and had a 45,X cell line. A fifth patient with a large abnormal X chromosome was investigated. This chromosome was composed of two X chromosomes joined at the end of the short arms.
    Aberration: DI,IC,TX
    No band
  • de la Chapelle A: Personal communication, 1974.
    45,X/46,X,dup(X).
    Aberration: Duplication
    No band
  • Deng H X, Xia J H, Ishikawa M, Niikawa N: Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs. Jpn. J. Hum. Genet. 35:245-251, 1990. [PubMed: 1979996]
    Patient III:
    46,X,i(X)(qter -> cen -> qter).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Xp-,Xq+
    Index Terms: RFLPs,Parental origin
    No band
  • Dewald G, Stallard R, Al Saadi A, Arnold S, Bader P I, Blough R, Chen K, Elejalde B R, Harris C J, Higgins R R, Hoeltge G A, Hsu W T, Kubic V, McCorquodale D J, Micale M A, Moore J W, Phillips R M, Scheib-Wixted S, Schwartz S, Siembieda S, Strole K, VanTuinen P, Vance G H, Wiktor A, Wise L, Yung J F, Zenger-Hain J, Zinsmeister A. : A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes. AJMG 76:318-326, 1998. [PubMed: 9545096]
  • Drayna D, White R: The genetic linkage map of the human X chromosome. Science 230:753-758, 1985. [PubMed: 4059909]
    No band
  • Erratum Clin. Genet. 49:333-334, 1996.
    Engelen J J M, Loots W J G, Motoh P C C, Moog U, Hamers G J H, Geraedts J P M.: Marker chromosome identification by micro-FISH. Clin. Genet. 49:242-248, 1996. [PubMed: 8832132]
    Patient A:
    mos45,X/46,X,del(X)de novo.
    The patient was 11 years old with features suggestive of Turner syndrome: low posterior hairline, shield chest, widely spaced nipples, numerous naevi and dysplastic toe nails.
    No band
  • Farman N, Borgaonkar D S, Bolling D R.: Isochromosomes in man. Excerpta Med. Vth Int. Congress Hum Genet. Series No. 397:#312, 1976.
    Schueler M G, Higgins A W, Rudd M K, Gustashaw K, Willard H F.: Genomic and genetic definiton of a functional centromere. Science 294:109-115, 2001. [PubMed: 11588252]
    A remarkable conclusion by the authors who state that DXZ1 DNA is sufficient for centromere function.

    Sharp C B, Bedford H M, Willard H F: "Pericentromeric structure of human X ""isochromosomes"": evidence for molecular hetrogeneity." Hum. Genet. 85:330-336, 1990. [PubMed: 2394446]
    Wolff D J, Miller A P, Van Dyke D L, Schwartz S, Willard H F.: Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. AJHG 58:154-160, 1996. [PMC free article: PMC1914957] [PubMed: 8554051]
    Four cases were reported in the 1990 paper and eleven, including three from the earlier report in the 1996 report.
    46,X,i(Xq);mos45,X/46,X,i(Xq); or mos45,X/46,X,dic(X)(qter->p11::p11->qter); or mos45,X/46,X,psu dic(X)(p11.21).
    The 1990 studies using alpha-satellite probes indicated that rearrangements can occur at numerous locations in the pericentromeric region and that some X-isochromosomes may involve duplications of substantial portions of the short arm. The 1996 data demonstrated that the majority of breakpoints resulting in i(Xq) formation are in band Xp11.2 and not in the centromere itself. It is hypothesized by the authors that the predominant mechanism of i(Xq) formation involves sequences in the proximal short arm that are prone to breakage and reunion events between sister chromatids or homologous X chromosomes. My colleagues and I had also hypothesized in 1976 that such a mechanism may be responsible, based on the high preponderance of i(Xq) cases in this and the Registry/Repository data bases at that time.
    Aberration: Isochromosome
    No band
  • Fatora S R, Pan S F, Kenny F M, Steele M W: A unique mixoploid variant of ovarian agenesis. AJHG 26:30A, 1974.
    46,X,i(Xq)/45,X/45,i(Xq).,This would be the first report of an Xq isochromosome persisting in a monosomic state.
    Aberration: Isochromosome
    Index Terms: Ovarian ... agenesis
    No band
  • Fitzgerald P H: A mechanism of X chromosome aneuploidy in lymphocytes of aging women. Humangenetik 28:153-158, 1975. [PubMed: 1150269]
    Fitzgerald P H, Pickering A F, Mercer J M, Miethke P M: Premature centromere division: A mechanism of non-disjunction causing X chromosome aneuploidy in somatic cells of man. Ann. Hum. Genet. 38:417-428, 1975. [PubMed: 1190734]
    Premature centromere division (PCD) of the X chromosome is thought to be responsible in the mechanism resulting in subsequent aneuploidy.
    Premature centromere division (PCD) was found in 2% of metaphases from women and four times more than this in older women (over 59 years). PCD is thought to be responsible for aneuploidy observed in aging women.
    MIM#: 176430
    Index Terms: Premature centromere division (PCD)
    No band
  • Fraccaro M, Ikkos D, Lindsten J, Luft R, Kaijser K: A new type of chromosomal abnormality in gonadal dysgenesis. Lancet 2:1144, 1960.
    Isochromosome X was first described in this report in three patients with Turner syndrome characteristics. This is also the first report of an isochromosome anomaly in man.
    Aberration: Isochromosome
    Index Terms: Gonadal dysgenesis,Turner syndrome
    No band
  • Friedrich U, Larsen T B, Nielsen J: Diagnostic reliability of the cytogenetic centromere heteromorphism in the human X chromosome. Clin. Genet. 40:465-466, 1991. [PubMed: 1685701]
    22 Turner syndrome patients were studied for their X chromosome polymorphism.
    In 19 families the single X could be traced to the mother by C banding and RFLP analysis.
    Aberration: Marker chromosome
    Index Terms: Polymorphism
    No band
  • Fryns J P, Kleczkowska A, Van den Berghe H: Isochromosome Xq in mosaicism with a cell line with two normal X-chromosomes: association with psychomotor retardation and neurological deficit. Ann. Genet. 36:173-175, 1993. [PubMed: 8117065]
    Mother:46,XX,inv(5)(p13q22).
    Patient L.K.
    mos46,XX,inv(p13q22)mat/46,X,i(Xq)inv(p13q22)(3/52 cells)-1st lymphocyte culture.&2nd culture 3/102 cells.&Skin fibroblasts from left and right forearms showed normal cells.
    Aberration: IC,PI
    No band
  • Fujita H, Tanigawa Y, Yoshida Y, Okada Y: Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter to cen to p22::p11 to qter). Hum. Genet. 39:147-155, 1977. [PubMed: 598825]
    Because of the finding of an unusual X-X translocation karyotype in the 11th case, it is concluded that it is difficult to delineate i dic(Xq) from translocation X-X patients. We have also encountered similar karyotype and difficulties (Farman, et al, 1976).
    Aberration: Simple translocation
    No band
  • Geneix A, Janny L, Perissel B, Hermabessiere J, Loubier E, Malet P: 47,X,i(Xq) karyotype. A new case. Pathologica 75:425-428, 1983. [PubMed: 6646851]
    47,X,i(Xq),Y.
    Phenotype was that of the Klinefelter syndrome.
    Aberration: Isochromosome
    Index Terms: Klinefelter syndrome
    No band
  • Halbrecht I, Shabtai F, Kupferstain C: Primary amenorrhea with a new mosaic 46,XXqi/47,XXqiXp-. Consideration on the X isochromosome formation and X chromosome inactivation. Acta Genet. Med. Gemellol. 26:63-69, 1977. [PubMed: 71839]
    mos 46,X,i(Xq)/47,X,i(Xq)del(X)(p1).
    24 year-old woman with ''Turner''s syndrome'' was found to have this unusual karyotype. Parents were not studied and 1 sib lived only a few months.
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • Hando J C, Tucker J D, Davenport M, Tepperberg J, Nath J.: X chromosome inactivation and micronuclei in normal and Turner individuals. Hum. Genet. 100:624-628, 1997. [PubMed: 9341883]
    No band
  • Harbison M, Hassold T J, Kobryn C, Jacobs P A: Molecular studies of the parental origin and nature of human X isochromosomes. Cytogenet. Cell Genet. 47:217-222, 1988. [PubMed: 2901328]
    James R S, Dalton P, Gustashaw K, Wolff D J, Willard H F, Mitchell C, Jacobs P A.: Molecular characterization of isochromosomes of Xq. Ann. Hum. Genet. 61:485-490, 1997. [PubMed: 9543548]
    35 patients were studied in the 1997 paper.
    i(Xq) is not associated with parental age. Centromere misdivision is not a common mechanism of formation.
    9 subjects were studied for the 1988 paper.
    46,X,iso(Xq).
    The 1988 data on 8 cases was informative: 6/8 were maternal and 2/8 were paternal.
    Aberration: Isochromosome
    No band
  • Harsha H C, Suresh S, Amanchy R, Deshpande N, Shanker K, Yatish A J, Muthusamy B, Vrushabendra B M, Rashmi B P, Chandrika K N, Padma N, Sharma S, Badano J L, Ramya M A, Shivashankar H N, Peri S, Choudhary D R, Kavitha M P, Saravana R, Niranjan V, Gandhi T K B, Ghosh N, Chandran S, Menezes M, Joy M, Sujatha Mohan S, Katsanis N, Deshpande K S, Raghothama C, Prasad C K, Pandey A.: A manually curated functional annotation of the human X chromosome. Nature Genet. 37:331-332, 2005. [PubMed: 15800640]
  • Hayata I, Oshimura M, Marinello M J, Bannerman R M, Sandberg A A: Non-disjunction of an unusual X chromosome. J. Med. Genet. 13:320-334, 1976. [PMC free article: PMC1013424] [PubMed: 957382]
    47,XXX plus additional acentric chromosomes in varying number and in various proportions were found in blood cells in a mother who was studied because of multiple abnormalities in her children.
    No band
  • Heine-Suner D, Torres-Juan L, Morla M, Busquets X, Barcelo F, Pico G, Bonilla L, Govea N, Bernues M, Rosell J.: Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. AJMG DOI=10.1002/ajmg.a.20160, 2003. [PubMed: 12955761]
    Index Terms: XIST,FMR1
  • Hodgson S V, Chiu D, Polani P E: Sexual development of patients with isochromosomes for the long arm of the X chromosomes. Hum. Genet. 58:176-178, 1981. [PubMed: 7287001]
    Aberration: Isochromosome
    No band
  • Howard-Peebles P N, Stoddard G R: X-linked mental retardation with macro-orchidism and marker X chromosomes. Hum. Genet. 50:247-251, 1979. [PubMed: 489008]
    Index Terms: Macro-orchidism
    No band
  • Huang B, Lamb A, Dorian A, Brumblay J, Powell B.: Small supernumerary ring X chromosome in a four-month-old girl. AJMG 85:191-193, 1999. [PubMed: 10406677]
    Blood=mos47,XX,+r(X)[23/100]/46,XX.ish(DXZ1+,DXIST- in the ring)
    The patient was ascertained because of hypotonia, developmental delay, minor anomalies, and failure to thrive.
    Aberration: Ring chromosome
  • Igarashi M, Tsukahara M, Sugio Y, Katayama K, Kajii T: 46,X,i(Xq)/47,XX,+13 mosaicism. Ann. Genet. 28:241-244, 1985. [PubMed: 3879438]
    Patient was 10 years old.
    mos46,X,i(Xq)/47,XX,+13..
    Aberration: Isochromosome
    No band
  • Joseph A M, Jagannath M, Thomas I M: "Yqs resulting from a reciprocal Y;15 translocation in the father of a 46,X,i(Xq)girl." Hum. Genet. 74:203, 1986. [PubMed: 3770749]
    No band
  • 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.
    Aberration: Isochromosome
    Index Terms: Klinefelter syndrome
    No band
  • Kelly T E, Wilks J W, Wyandt H E: Secondary amenorrhoea and 47,XX,i(Xq) karyotype. J. Med. Genet. 23:371-372, 1986. [PMC free article: PMC1049714] [PubMed: 3746846]
    Patient was 25 years old.
    47,XX,i(Xq).
    Aberration: Isochromosome
    No band
  • Kim H J, Hsu L Y F, Hirschhorn K: Long-arm deletion with features of Turner''s syndrome. Lancet 1:1296, 1974. [PubMed: 4134188]
    46,X,i(Xq).,See also entry 0Xq200 (Wright and Scanlon, 1974).
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • King C R, Schimke R N: Pregnancy in a patient with 47,XX,i(Xq) karyotype. J. Med. Genet. 19:467-469, 1982. [PMC free article: PMC1048966] [PubMed: 7154047]
    Aberration: Isochromosome
    Index Terms: Pregnancy ... in 47 XX i(Xq)
    No band
  • Kirillova E A, Zolotukhina T V, Mikelsaar A V N, Seleznev Y V, Rozovskii I S: Isochromosome Xpi. Diagnosis and phenotypic expression. Soviet Genetics 8:370-377, 1972,1974. [PubMed: 4846481]
    Case 1 (Patient KVD0539) and Case 2 (Patient SLP0040) in this report.
    46,X,i(Xp).
    Aberration: Isochromosome
    No band
  • 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]
    46,X,i(Xq).,mos45,X/46,X,i(Xq).
    Aberration: Isochromosome
    No band
  • Lau A W, Brown C J, Penaherrera M, Langlois S, Kalousek D K, Robinson W P.: Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. AJHG 61:1353-1361, 1997. [PMC free article: PMC1716095] [PubMed: 9399909]
    28 cases of CPM were evaluated, 22 of which were informative at the androgen-receptor (AR) locus.
    Abnormal cell lines were trisomies of 2, 7, 8, 12, 16, 17, 20 and 22.
    A higher rate of skewed X-chromosome inactivation was observed in cases of meiotic CPM.
    Index Terms: Skewed X-chromosome inactivation,CPM
    No band
  • Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival J M.: Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus. Prenat. Diag. 23:143-145, 2003. [PubMed: 12575022]
    CVS, STC=46,XY[4]/47,XY,+r(?)[10]/48,XY,+r(?),+r(?)[6].,CVS, LTC=46,XY[10]/47,XY,+r(?)[22]/48,XY,+r(?),+r(?)[18].,ish r(X)(DXZ1+,90P17+)
    Anomalies include Dandy-Walker malformations, corpus callosum and septal agenesis, dilated ventricles, and dysmorphic facial features.
    The breakpoint on Xq was determined to be between Xq12 (90 P17 probe) and Xq13.2 (XIST probe).
    Aberration: Ring chromosome
  • Lin C C, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro T A, Hoo J J: Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X,+mar by use of 45,X/46,X,+mar by use of chromosome-specific DNA probes. AJMG 37:71-78, 1990. [PubMed: 2240047]
    Patient 1 (S.M.)
    Patient 2 (C.L.).
    No band
  • Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A A: A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. AJHG 49:1034-1040, 1991. [PMC free article: PMC1683244] [PubMed: 1681727]
    14 cases were studied.
    mos45,X/46,X,i(Xq) in 11 patients.&mos45,X/46,X,idic(Xq) in 3 patients.
    Aberration: IC,DI
    No band
  • Madan K: Balanced structural changes involving the human X: Effect on sexual phenotype. Hum. Genet. 63:216-221, 1983. [PubMed: 6343223]
    No band
  • Mandel J L, Monaco A P, Nelson D L, Schlessinger D, Willard H: Genome analysis and the human X chromosome. Science 258:103-109, 1992. [PubMed: 1439756]
    No band
  • Mayhall J T, Alvesalo L, Townsend G C: Tooth crown size in 46,X,i(Xq) human females. Arch. Oral Biol. 36:411-414, 1991. [PubMed: 1898269]
    6 patients were studied.
    46,X,i(Xq).
    Crown diameters of the iso X patients were not only smaller than in the normal women but even smaller than the 45,X females.
    This is considered as indirect evidence that X chromosome gene(s) for tooth crown growth are most probably located on the short arm.
    Aberration: Isochromosome
    Index Terms: Tooth crown size
    No band
  • Michalova K, Malkova J, Urban J: Cell division and sister chromatid exchanges in 45,X/46,X,i(Xq) mosaicism. Hum. Genet. 39:87-90, 1977. [PubMed: 924446]
    mos 45,X/46,X,i(Xq).&Five mosaics and controls were studied by means of the BUDR/FPG technique. The mean number of SCE were not significantly different.
    No band
  • Mohandas T K, Miles J, Sparkes R S, Sparkes M C, Passage M B, Kaback M M: Assignment of Adenosine Deaminase(ADA) to the long arm of chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation. AJHG 30:133A, 1978.
    Mohandas T K, Shapiro L J, Sparkes R S, Sparkes M C: Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome. PNAS 76:5779-5783, 1979. [PMC free article: PMC411734] [PubMed: 293682]
    46,X,t(X;20)(Xp20q;Xq20p).
    Aberration: Whole-arm translocations
    MIM#: 308100
    No band
  • Mori P G, Pasino M, Vadala C R, Bisogni M C, Tonini G P, Scarabicchi S: Haemophilia ''A'' in a 46,X,i(Xq) female. Brit. J. Haematol. 43:143-147, 1979. [PubMed: 508616]
    Aberration: Isochromosome
    MIM#: 306700
    Index Terms: Hemophilia
    No band
  • Nakagome Y: Inactivation centers in the human X chromosome. AJHG 34:182-194, 1982. [PMC free article: PMC1685292] [PubMed: 6985472]
    It is suggested that the segments pter->p21 and q13->qter and probably q25 or 26->qter include an ''inactivation center(s)''.
    No band
  • Niebuhr E, Skovby F: Cytogenetic studies in seven individuals with an i(Xq) karyotype. Hereditas 86:121-128, 1977. [PubMed: 903248]
    mos45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq).
    Also studied by Koch et al (1990) and cited under 0Xp210.
    Aberration: Isochromosome
    No band
  • Orstavik R E, Tommerup N, Eiklid K, Orstavik K H.: Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome. AJMG 56:210-214, 1995. [PubMed: 7625447]
    Index Terms: Wiedemann-Beckwith syndrome
    No band
  • Otokida K, Ohira K, Ishikawa M, Arakawa N, Yoshida A, Kamimura A, Kou E, Kato M: A case of Turner syndrome with the karyotype of 45,X/46,X,i(Xq) associated with acute monocytic leukemia. Tohoku J. Exp. Med. 161:19-24, 1990. [PubMed: 2396252]
    mos45,X/46,X,i(Xq).
    Patient was 37 years old. The patient had characteristics of the Turner syndrome. The authors claim that this is the first report of AMoL in Turner patient.
    Aberration: Isochromosome
    Index Terms: Acute Monocytic leukemia
    No band
  • Otto P G, Vianna-Morgante A M, Otto P A, Wajntal A: The Turner phenotype and the different types of human X isochromosome. Hum. Genet. 57:159-164, 1981. [PubMed: 7228026]
    Nine patients with idic(X)(p11), one with a idic(X)(p22), and one with a i(Xq) karyotype were reported.
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • Panzer M J, Tandon R: Bipolar disorder associated with Turner''s syndrome. J. Nerv. Ment. Dis. 179:702, 1991. [PubMed: 1940896]
    Patient Ms. A. was 36 years old.
    mos45,X(86%)/46,X,iso(Xq)(14%).
    The patient had a 15 year psychiatric history.
    Aberration: Isochromosome
    MIM#: 309200
    Index Terms: Bipolar disorder
    No band
  • Pellestor F, Girardet A, Lefort G, Andreo B, Charlieu J P.: Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y. Hum. Genet. 95:12-17, 1995. [PubMed: 7814017]
    Index Terms: PRINS
    No band
  • Pfeiffer R A, Wundisch G: Findings in a 3-year-old girl with an additional isochromosome of the long arm of an X-chromosome (47,XX,+i(Xq)). Klin. Padiatr. 203:47-50, 1991. [PubMed: 2027268]
    Patient AW 870224.
    47,XX,+i(Xq).
    Patient was 3 years old with mild dysmorphic features, MR, and dysplasias of the thoracic vertebrae.
    Aberration: Isochromosome
    No band
  • Plattner R, Heerema N, Yurov Y B, Palmer C G: Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum. Genet. 91:131-140, 1993. [PubMed: 8462972]
    Case 22.
    Cases 18 and 19.
    mos45,X/46,X,+X(small marker like).
    No band
  • Plenge R M, Stevenson R A, Lubs H A, Schwartz C E, Willard H F.: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. AJHG 71: In press; DOI=0002-9297/2002/7101, 2002. [PMC free article: PMC384975] [PubMed: 12068376]
    The authors studied 155 female subjects from 24 families segregating 20 distinct XLMR disoders.
    The XLMR mutations were present on the preferentially inactive X chromosome in all 20 informative female subjects.
    Index Terms: X inactivation in XLMR
  • Ponzio G, De Marchi M, Gallone G, Fonzo D, Carbonara A O: A case of Klinefelter''s syndrome with 47,Xi(Xq)Y karyotype. J. Med. Genet. 17:152-155, 1980. [PMC free article: PMC1048526] [PubMed: 7189784]
    A 33 year old proband is described. The father was 35 years old and the mother 33.
    Aberration: Isochromosome
    Index Terms: Klinefelter syndrome
    No band
  • Priest J H, Blackston R D, Au K S, Ray S L: Differences in human X isochromosomes. J. Med. Genet. 12:378-389, 1975. [PMC free article: PMC1013317] [PubMed: 1219118]
    Case 1 in this report.
    46,X,i(Xq)(qter -> cen -> qter).
    Case 2 in this report.
    45,X/46,X,dic,i(Xq).&45,X/46,X,dic,i(Xq)(qter -> cen -> Xp11::Xp11 -> cen -> Xqter).&Two models for the formation of X long arm isochromosomes have been proposed.
    Case 3 in this report.
    45,X/46,X,i(Xq).&Maternal grandmother and mother of this patient are reported -> have 45,X/46,XX/46,X,r(X) karyotype.
    Aberration: Isochromosome
    No band
  • Quan F, Janas J, Toth-Fejel S E, Johnson D B, Wolford J K, Popovich B W.: Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. AJHG 60:160-165, 1997. [PMC free article: PMC1712557] [PubMed: 8981959]
    Proband was 6 years old with clinical signs of DMD.
    Homozygosity for a deletion of exon 50 of the dystrophin gene was caused by maternal isodisomy for the entire X chromosome.
    Aberration: Uniparental disomy
    MIM#: 310200
    Index Terms: UPD,DMD in a Female
    No band
  • Rauch A, Pfeiffer R A, Trautmann U, Liehr T, Rott H D, Ulmer R: A study of ten small supernumerary (marker) chromosomes identified by flourescence in situ hybridization (FISH). Clin. Genet. 42:84-90, 1992. [PubMed: 1424236]
    Case 10, DS 850520.
    mos46,XY/47,XY,+mar(X).
    The patient had MCA/MR.
    No band
  • Ravnan J B, Chen E, Golabi M, Lebo R V.: Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. AJMG 66:250-256, 1996. [PubMed: 8985481]
    mos45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq)
    Patient was 6 years old.
    Aberration: Isochromosome
    MIM#: 192430
    Index Terms: Velo-Cardio-Facial syndrome
    No band
  • Richer C L: Letter to the Editor-Response to Fryns, et al: Isochromosome Xq in Klinefelter syndrome. AJMG 36:366, 1990.
    Richer C L, Bleau G, Chapdelaine A, Murer-Orlando M, Lemieux N, Cadotte M: A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization. AJMG 32:42-44, 1989. [PubMed: 2705482]
    Patient M.G. was 30 years old.
    47,XY,+i(Xq) or 47,Xi(Xq)Y.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Xq+
    Index Terms: Klinefelter syndrome
    No band
  • Rivera H, Enriquez-Guerra M A, Rolon A, Jimenez-Sainz M E, Nunez-Gonzalez L, Cantu J M: "Whole-arm t(X;17)(Xp17q;Xq17p) and gonadal dysgenesis. A further exception to the critical region hypothesis." Clin. Genet. 29:425-428, 1986. [PubMed: 3742848]
    Patient was 19 years old, had amenorrhea, was 156cm tall, and was student nurse.
    46,X,t(X;17)(Xp17q;Xq17p).
    Aberration: Whole-arm translocations
    Index Terms: Critical region of the X chromosome,Gonadal dysgenesis,Stature ... short (low)
    No band
  • Ross M T, Grafham D V, Coffey A J, Scherer S, Mclay K, Muzny D, Platzer M, Howell G R, Burrows C, Bird C P, Frankish A, Lovell F L, Howe K L, Ashurst J L, Fulton R S, Sudbrak R, Wen G, Jones M C, Hurles M E, Andrews T D, Scott C E, Searle S, Ramser J, Whittaker A, Deadman R, Carter N P, Hunt S E, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker M L, Richards S, Scott G, Steffen D, Sodergren E, Wheeler D A, Worley K C, Ainscough R, Ambrose K D, Ansari-Lari M A, Aradhya S, Ashwell R I S, Babbage A K, Bagguley C L, Ballabio A, Banerjee R, Barker G E, Barlow K F, Barrett I P, Bates K N, Beare D M, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman A M, Brown A J, Brown M J, Bonnin D, Bruford E A, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye J M, Carder C, Carrel L, Chako J, Chapman J C, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark S Y, Clarke G, Clee C M, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole C G, Conquer J S, Corby N, Connor R E, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin J, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans K L, Faulkner L, Francis F, Frankland J, Fraser A E, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory S G, Bribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart E A, Hawes A, Heath P D, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden P J, Huckle E J, Hume J, Hunt P J, Hunt A R, Isherwood J, Jacob L, Johnson D, Jones S, De Jong P J, Joseph S S, Keenan S, Kelly S, Kershaw J K, Khan Z, Kioschis P, Klages S, Knights A J, Kosiura A, Kovar-Smith C, Laird G K, Langford C, Lawler S, Levershaw M, Lewis L, Liu W, Llyod C, Lloyd D M, Loulseged H, Loveland J E, Lovell J D, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews L H, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry S L, Morgan M, Morris S, Muller I, Mullikin J C, Nguyen N, Nordsiek G, Nyakatura G, O''dell C N, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce A V, Pearson D M, Pelan S E, Perez L, Porter K M, Ramsey Y, Reichwald K, Rhodes S, Ridler K A, Schlessinger D, Schueler M G, Sehra H K, Shaw-Smith C, Shen H, Sheridan E M, Shownkeen R, Skuce C D, Smith M L, Sotheran E C, Steingruber H E, Steward C A, Storey R, Swann R M, Swarbreck D, Tabor P E, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans A C, D''urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry G L, Wei X, West A, Whitehead S L, Whiteley M N, Wilkinson J E, Willey D L, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey R L, Wray P W, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx P J, Hillier L W, Willard H F, Wilson R K, Waterson R H, Rice C M, Vaudin M, Coulson A, Nelson D L, Weinstock G, Sulston J E, Durbin R, Hubbard T, Gibbs R A, Beck S, Rogers J, Bentley D R. : The DNA sequence of the human X chromosome. Nature 434:325-337, 2005. [PMC free article: PMC2665286] [PubMed: 15772651]
    Aberration: Marker chromosome
    Index Terms: DNA sequence
  • Santana J A M, Gardner L I, Neu R L: The X isochromosome-X syndrome \46,X,i(Xq)\. Report of three cases with review of the phenotype. Clin. Ped. 16:1021-1026, 1977. [PubMed: 913006]
    Aberration: Isochromosome
    No band
  • Sarto G E: Cytogenetics of fifty patients with primary amenorrhea. Am. J. Obst. Gynecol. 119:14-23, 1974. [PubMed: 4820908]
    45,X/46,X,i(Xq).&46,X,i(Xq).
    Aberration: Isochromosome
    No band
  • Schmidt M, DuSart D, Kalitsis P, Leversha M, Dale S, Sheffield L, Toniolo D: Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies. Hum. Genet. 86:519-521, 1991. [PubMed: 2016093]
    Index Terms: X activation
    No band
  • Schwanitz G, Tietze H U, Pfeiffer R A, Grosse K P, Becker H, Egger H: Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings. Acta Genet. Med. Gemellol. 26:277-281, 1977. [PubMed: 613693]
    Case 1 A. M. in this report.
    mos 45,X/46,X,t(X;X).
    Case 2 B. N. in this report.
    mos 45,X/46,X,t(X;X).
    Case 3 B. V. H. in this report.
    46,X,t(X;X).,Varying amounts of deletions have been hypothesized in each of the three patients.
    Aberration: Simple translocation
    No band
  • Schwartz S, Depinet T W, Leana-Cox J, Isada N B, Karson E M, Park V M, Pasztor L M, Sheppard L C, Stallard R, Wolff D J, Zinn A B, Zurcher V L, Zackowski J L.: Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature. AJMG 71:1-7, 1997. [PubMed: 9215760]
    13/23 patients had X chromosome abnormalities.
    Patient Nos. 1, 2, 5, 16, 18, 20, and 21:mos45,X/46,X,r(X).,Patient 17:46,X,r(X).,Patient Nos. 3, 4, 10, and 19:mos45,X/46,X,mar(X).,Patient No. 15:46,X,mar(X).
    The patients were ascertained because of Turner symptoms, MR, or ambiguous genitalia.
    Aberration: Ring chromosome
    No band
  • Silahtaroglu A N, Hacihanefioglu S, Yilmaz S, Tarkan Y, Cenani A, Tumer Z.: A small supernumerary marker chromosome X identified by in situ hybridization. Clin. Genet. 47:270-273, 1995. [PubMed: 7554355]
    Patient had moderate MR and dysmorphic features and was 12 years old.

    Tumer Z, Tommerup N, Binkert F, Back E, Brondum-Nielsen K.: Prader-Willi-like phenotype and the proximal long arm of the X chromosome. AJMG 80:300-301, 1998.
    Tumer Z, Wolff D, Silahtaroglu A N, Orum A, Brondum-Nielsen K.: Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes. AJMG 76:45-50, 1998. [PubMed: 9508064]
    Patient 2, CFW:
    mos46,XX/47,XX,+mar
    Index Terms: Prader-Willi phenotype
  • Solomon I L, Hamm C W, Green O C: Chromosome studies on testicular tissue cultures and blood leucocytes of a male previously reported to have no Y chromosome. NEJM 271:585-592, 1964. [PubMed: 14172968]
    46,X,i(Xq)/47,X,i(Xq),+?Y.
    Aberration: Isochromosome
    No band
  • Stevenson A C, Bedford J, Barbertown G M: A patient with 45,X/46,XXq-/46,XXq-dic karyotype. J. Med. Genet. 8:513-516, 1971. [PMC free article: PMC1469084] [PubMed: 5149536]
    45,X/46,X,Xq-/46,X,dic(X).
    Aberration: TD,ST,DI
    No band
  • Sullivan B A, Willard H F.: Stable dicentric X chromosomes with two functional centromeres. Nature Genet. 20:227-228, 1998. [PubMed: 9806536]
    Aberration: Dicentric chromosome
  • Surrall+¬s J, Natarajan A T.: Position effect of translocations involving the inactive X chromosome: physical linkage to XIC/XIST does not lead to long-range de novo inactivation in human differentiated cells. Cytogenet. Cell Genet. 82:58-66, 1998. [PubMed: 9763661]
    Index Terms: X inactivation
  • Therman E, Denniston C, Sarto G E, Ulber M: X chromosome constitution and the human female phenotype. Hum. Genet. 54:133-143, 1980. [PubMed: 7390488]
    No band
  • Therman E, Patau K: Abnormal X chromosomes in man: Origin, behavior and effects. Humangenetik 25:1-6, 1974. [PubMed: 4475024]
    An inactivation center is hypothesized to be present on the proximal part of Xq. The phenotypic effects of monosomy, disomy and trisomy for different parts of Xp and Xq are discussed.
    No band
  • Therman E, Sarto G E, DeMars R I: The origin of telocentric chromosomes in man: a girl with tel(Xq). Hum. Genet. 57:104-107, 1981. [PubMed: 7262864]
    Patient KP(100469) ascertained at age 3 years, is mentally retarded with some Turner syndrome symptoms.
    46,X,tel(Xq).
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Therman E, Sarto G E, Disteche C M, Denniston C: A possible active segment on the inactive human X-chromosome. Chromosoma 59:137-145, 1976. [PubMed: 1009814]
    No band
  • Therman E: Mechanisms through which abnormal X-chromosome constitutions affect the phenotype. In Cytogenetics of the Mammalina X chromosome, Part B-Ed. Sandberg, A A, Liss, New York :159-173, 1983.
    Therman E, Sarto G E: Inactivation center on the human X chromosome. In Cytogenetics of the Mammalian X chromosome, Part A-Basic mechanisms of X chromosome behavior, Ed. Sandberg, A A, Liss, New York :315-325, 1983.
    No band
  • van den Berghe H, Fryns J P, Devos F: 46,XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies. Humangenetik 20:163-166, 1973. [PubMed: 4785163]
    46,X,i(Xp).,46,X,i(X)(Xpter -> cen -> Xpter).
    Aberration: Isochromosome
    Index Terms: Gonadal dysgenesis
    No band
  • van den Berghe H, Fryns J P, Soyez C: X/X translocation in a patient with Turner''s syndrome. Humangenetik 20:377-380, 1973. [PubMed: 4768115]
    45,X/46,X,t(X;X)(p;q).,45,X/46,X,t(X;X)(Xqter -> Xp::Xq -> Xqter).
    Aberration: Simple translocation
    Index Terms: Turner syndrome
    No band
  • Van Dyke D L, Wiktor A, Palmer C G, Miller D A, Witt M, Babu V R, Worsham M J, Roberson J R, Weiss L: Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. AJMG 43:996-1005, 1992. [PubMed: 1415351]
    Aberration: RI,IC
    No band
  • Velagaleti G V N, Tharapel S A, Martens P R, Tharapel A T.: Rapid identification of marker chromosomes using primed in situ labeling (PRINS). AJMG 71:130-133, 1997. [PubMed: 9217209]
    Case 2:JT.
    mos45,X[6]/46,X,r(?X)[14].ish r(X)(DXZ1+)
    The 18 year old woman presented with primary amenorrhea and some other features of Turner syndrome.
    Index Terms: PRINS
    No band
  • Verma R S, Ved Brat S, Khan F, Dosik H: Variant Turner features in a female with X-isochromosome \46,X,i(Xq)\: is it a distinct clinical entity? Ann. Genet. 24:57-60, 1981. [PubMed: 6971622]
    A 37 year old patient with short stature and primary amenorrhea was karyotyped. It is suggested that 46,X,i(Xq) patients do not have distinct phenotypic expression which in itself is suggestive of the genotype.&46,X,i(X)(qter -> cen -> qter).
    Aberration: Isochromosome
    Index Terms: Stature ... short (low),Turner syndrome
    No band
  • Wachtel S S, Koo G C, Breg W R, Genel M: H-Y antigen in X,i(Xq) gonadal dysgenesis: Evidence of X-linked genes in testicular differentiation. Hum. Genet. 56:183-187, 1980. [PubMed: 7450775]
    46,X,i(Xq) patients were typed H-(Y) antigen positive. It is suggested that the H-Y positive cellular phenotype per se is not a valid marker for the Y-chromosome, and that H-Y genes that have been mapped to the pericentric region of the Y may be regulatory.
    Index Terms: Gonadal dysgenesis
    No band
  • Wang B B T, Rubin C H, Williams J III: Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat. Diag. 13:179-190, 1993. [PubMed: 8506219]
    CV90-1036.
    Direct:mos45,XX,-?,-?,+i(Xq)(3)/46,XX,-?,+i(Xq)(6)/47,XX,+i(Xq)(7).&Culture:mos46,XX(60)/47,XX,+i(Xq)(60).&Follow-up:mos46,XX(107)/47,XX,+i(Xq)(30)(amnio).
    Aberration: Isochromosome
    Index Terms: CVS
    No band
  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    104 female carriers were idenified over a 15 year period (1983-1997).
  • Yanagisawa S, Yokoyama H: Symptoms of Turner''s syndrome and interstitial heterochromatin in i(Xq). Clin. Genet. 7:299-303, 1975. [PubMed: 47795]
    45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq).,The abnormal chromosome has a heterochromatic segment in one of the arms and is probably not a true isochromosome.
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • Yanagisawa S: Isochromosome X associated with paracentric inversion. Lancet 2:1448, 1973. [PubMed: 4128764]
    46,X/46,X,i(Xq)/47,X,i(Xq),i(Xq).,A paracentric inversion was hypothesized to have occurred in the isochromosomes occurring at bands q11 and q13 on the long arm of chromosome X.
    Aberration: Isochromosome
    No band
  • Zang K D, Singer H, Loeffler L, Souvatzoglou (NI), Halbfass J, Mehnert H: Klinefelter-syndrom mit dem chromosomensatz 47,XXqiY. Klin. Wochenschr. 47:237-244, 1969. [PubMed: 5369822]
    Index Terms: Klinefelter syndrome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106116
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