Molecular analysis of the Y chromosome in XX sex-reversed patients

被引：1
|
作者：
Chernykh, V. B. [1 ]
Chukhrova, A. L. [1 ]
Wasserman, N. N. [1 ]
Il'inaa, E. V. [1 ]
Karmanov, M. E. [2 ]
Fedotov, V. P. [3 ]
Kurilo, L. F. [1 ]
Polyakov, A. V. [1 ]
机构：
[1] Russian Acad Med Sci, Med Genet Res Ctr, Moscow 115478, Russia
[2] Republ Childrens Clin Hosp, Minist Hlth Russian Federat, Moscow 117513, Russia
[3] Voronezh Interreg Med Genet Consultat, Voronezh 394018, Russia
来源：
RUSSIAN JOURNAL OF GENETICS | 2008年 / 44卷 / 02期
关键词：
D O I：
10.1134/S1022795408020129
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCR analysis of Y-specific loci in the 17 SRY-positive patients revealed Yp fragments varying in size in 16 cases and cryptic mosaicism (or chimerism) for the Y chromosome in one case. The frequencies of class I, II, and III (Yp+)XX sex reversals were 18.75, 25.25, and 56%, respectively. All of the class III (Yp+)XX sex-reversed patients had a 3.5-Mb paracentric inversion flanked by inverted repeats 3 (IR3) on the short arm of the Y chromosome.
引用
收藏
页码：197 / 201
页数：5
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