True hermaphroditism with partial duplication of chromosome 22 and without SRY

被引：0
|
作者：
Aleck, KA
Argueso, L
Stone, J
Hackel, JG
Erickson, RP
机构：
[1] Univ Arizona, Coll Med, Div Med & Mol Genet, Tucson, AZ USA
[2] Univ Arizona, Coll Med, Steele Mem Childrens Res Ctr, Tucson, AZ USA
[3] Urol Associates, Phoenix, AZ USA
[4] Genzyme Genet, Phoenix, AZ USA
[5] St Josephs Hosp & Med Ctr, Phoenix, AZ USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1999年 / 85卷 / 01期
关键词：
true hermaphroditism; chromosome; 22; SRY; ZFY;
D O I：
10.1002/(SICI)1096-8628(19990702)85:1<2::AID-AJMG2>3.0.CO;2-G
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22, Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY, We conclude that there are genes on chromosome 22 that are involved in sex determination. Am, J. Med, Genet. 85:2-4, 1999, (C) 1999 Wiley-Liss, Inc.
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收藏
页码：2 / 4
页数：3
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