XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype

被引：0

作者：

Angle, B ^{[1
]}

Hersh, JH ^{[1
]}

Yen, F ^{[1
]}

Verdi, GD ^{[1
]}

机构：

[1] UNIV LOUISVILLE,CHILD EVALUAT CTR,DEPT SURG,LOUISVILLE,KY 40202

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 68卷 / 01期

关键词：

XY gonadal dysgenesis; multiple pterygium; phenotype;

D O I：

10.1002/(SICI)1096-8628(19970110)68:1<7::AID-AJMG2>3.3.CO;2-Y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described, We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia, Although not previously reported, the possible relationship between these findings is discussed in the context of evident heterogeneity of XY gonadal dysgenesis. (C) 1997 Wiley-Liss, Inc.

引用

页码：7 / 11

页数：5

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