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

页码：197 / 201

页数：5

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