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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- Mattei M G, Mattei J F, Ayme S, Malpuech G, Giraud F: A dynamic study in two new cases of X chromosome translocations. Hum. Genet. 41:251-257, 1978. [PubMed: 649152]
Mattei M G, Mattei J F, Vidal I, Giraud F: Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations. Hum. Genet. 54:365-370, 1980. [PubMed: 6156888]Case 1 (3 months old) in this report.46,X,der(X)t(X;22)(q112;q13)mat.Case 2 in this report.46,X,t(X;9)(p22;q12).,Translocated X was inactive in both patients whereas in the mother of case 1, the normal X was inactive.,46,X,der(22)t(X;22)(q112;q13)mat.Mother''s karyotype was a balanced translocation.46,X,t(X;22)(q112;q13).Aberration: Simple translocationNegative band - Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Kruger A, Dorr S, Starke H, Hansmann I.: Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. AJMG 102:286-292, 2001. [PubMed: 11484209]The patient was 9 years old.45,X[40%]/46,X,+r[60%].rev ish enh (Xq11.2q13.2).ish r(X)(DXS422-, RPS4X+,XIST+,DXS128E+,DXZ1+).Uniparental disomy for X and r(X) was excluded.Aberration: Ring chromosomeMIM#: 147920Index Terms: Kabuki syndrome
- Xu W, Robert C, Thornton P S, Spinner N B.: Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. AJMG DOI=10.1002/ajmg.a.20043;120A:434-436, 2003. [PubMed: 12838569]Aberration: Inversion paracentricMIM#: 300068Index Terms: Androgen insensitivity syndrome (AIS)
- 0Xq112 - Chromosomal Variation in Man0Xq112 - Chromosomal Variation in Man
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