Two unbalanced translocations involving a common 6p25 region in two XY female patients

被引：9

作者：

Batanian, JR

Grange, DK

Fleming, R

Gadre, B

Wetzel, J

机构：

[1] Cardinal Glennon Mem Hosp Children, Dept Cytogenet, St Louis, MO 63104 USA

[2] St Louis Univ, Dept Pediat, Div Med Genet, Pediat Res Inst, St Louis, MO 63103 USA

来源：

CLINICAL GENETICS | 2001年 / 59卷 / 01期

关键词：

chromosomes X; 6; 13; male pseudohermaphrodite; multi-paint fluorescent in situ hybridization; sex reversal; unbalanced translocations;

D O I：

10.1034/j.1399-0004.2001.590109.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two 46,XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46,XY,der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46,XY,der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication ora 13q deletion is reported here for the first time.

引用

页码：52 / 57

页数：6

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