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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli C F, Viggiano D, Strisciuglio P: Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. AJMG 41:184-187, 1991. [PubMed: 1785631]46,Y,del(X)(p22.32 -> pter),9p+.,46,X,del(X)(p22.32 -> pter),9p+.The infant had short stature, chondrodysplasia punctata, ichthyosis, and steroid sulfatase deficiency.Aberration: TD,MAMIM#: 302950,308100Chromosomal Aneuploidy: Xp-Index Terms: Short staturePositive band
- Curry C J R, Magenis R E, Brown M, Lanman J T, Tsai J, O''Lague P, Goodfellow P N, Mohandas T K, Bergner E A, Shapiro L J: Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. NEJM 311:1010-1015, 1984. [PubMed: 6482910]
Mohandas T K, Speed R M, Passage M B, Yen P H, Chandley A C, Shapiro L J: Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. AJHG 51:526-533, 1992. [PMC free article: PMC1682713] [PubMed: 1496984]Patient D.R.46,X,del(X)(Xqter -> Xp2232:).,46,Y,del(X)(Xqter -> Xp2232:)mat.The 24 year old male had short stature, chondrodysplasia punctata, ichthyosis, STS deficiency, and mild MR.There was failure of XY pairing. Telomeric sequences on the deleted X were present. The pseudoautosomal sequences appear to play a role in XY pairing and formation of synaptonemal complex.Aberration: Interstitial deletionMIM#: 302950Chromosomal Aneuploidy: Xp-Index Terms: XY pairingPositive band - Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N: Short stature in a girl with a terminal deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J. Med. Genet. 29:455-459, 1992. [PMC free article: PMC1016018] [PubMed: 1640423]46,X,inv(X)(p22.32q26).Parental karyotypes were normal. The inv(X) was paternal in origin.Aberration: PI,IDChromosomal Aneuploidy: Xp-Index Terms: Short stature,GrowthPositive band
- Ogata T, Matsuo N: Sex chromosome aberrations and stature: deduction of the principle factors involved in the determination of adult height. Hum. Genet. 91:551-562, 1993. [PubMed: 8340109]Thirteen patients were studied.46,X,del(X)(p22.32).The adult height in patients with sex chromosome aberrations is defined by the dosage eefect of pseudo-autosomal and Y-specific growth genes, and influenced by the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: HeightPositive band
- Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S.: Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J. Med. Genet. 32:831-834, 1995. [PMC free article: PMC1051714] [PubMed: 8558568]46,X,inv dup(X)(Xqter->Xp22.32::Xp22.32->Xp21.3:del 700kb of PAR:Xp22.32->Xpter.The region between DXYS20 and DXYS15 is the critical region for a pseudoautosomal growth gene(s).Part of the description of the karyotype rearrangemnt is concocted by me based on the data given and ISCN (1995) recommendations.Aberration: DuplicationMIM#: 475000Chromosomal Aneuploidy: Xp-;Xp+Index Terms: Pseudoautosomal growth gene(s)Positive band
- Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U, Gal A.: Short stature in a mother and daughter with terminal deletion of Xp22.3. AJMG 63:239-242, 1996. [PubMed: 8723116]46,X,der del(X)(p22.32->pter)mat.The 10 year old proband''s height was 127.5cm, 3rd centile; her mother''s was 150cm.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Short StaturePositive band
- Thomas N S, Sharp A J, Browne C E, Skuse D, Hardie C, Dennis N R.: Xp deletions associated with autism in three females. Hum. Genet. 104:43-48, 1999. [PubMed: 10071191]Case 1, patient ID 97-05436:46,X,del(X)(p22.32).Case was ascertained because of short stature.Origin of the deleted X was paternal.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-
- Zhang A, Weaver D D, Palmer C G.: Molecular cytogenetic identification of four X chromosome duplications. AJMG 68:29-38, 1997. [PubMed: 8986272]Patient 2 (family #83997):46,X,inv dup(X)(p22.32->p22.1)mat,Y.The infant boy had MCA and the family was investigated.Patient 3 (family #87880):46,X,dup(X)(qter->q21.3::p22.33->p22.32::p22.32->qter)The 29 month old girl was referred for developmental delay, short stature, and minor abnormalities.Aberration: DuplicationChromosomal Aneuploidy: Xp+Positive band
- 0Xp2232 - Chromosomal Variation in Man0Xp2232 - Chromosomal Variation in Man
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