XXY MALE WITH X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME)

被引：41

作者：

SUTPHEN, R ^{[1
]}

AMAR, MJ ^{[1
]}

KOUSSEFF, BG ^{[1
]}

TOOMEY, KE ^{[1
]}

机构：

[1] ST CHRISTOPHERS HOSP CHILDREN,DIV GENET,PHILADELPHIA,PA 19133

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 03期

关键词：

HAPPLE SYNDROME; CHONDRODYSPLASIA PUNCTATA; KLINEFELTER SYNDROME;

D O I：

10.1002/ajmg.1320570326

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Happle syndrome is an X-linked dominant disorder with presumed lethality in hemizygous males; familial occurrence is rare. We describe a family with Happle syndrome affecting individuals in 3 generations. A man in this family is the first known male patient with Happle syndrome. He is severely affected; this may be due to his 47, XXY karyotype. (C) 1995 Wiley-Liss, Inc.

引用

页码：489 / 492

页数：4

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