PALLISTER-HALL SYNDROME ASSOCIATED WITH AN UNBALANCED CHROMOSOME-TRANSLOCATION

被引：28

作者：

KULLER, JA

COX, VA

SCHONBERG, SA

GOLABI, M

机构：

[1] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94143

[2] UNIV CALIF SAN FRANCISCO,DEPT OBSTET GYNECOL & REPROD SCI,SAN FRANCISCO,CA 94143

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

PALLISTER-HALL SYNDROME; HYPOTHALAMIC HAMARTOBLASTOMA; UNBALANCED TRANSLOCATION;

D O I：

10.1002/ajmg.1320430336

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.

引用

页码：647 / 650

页数：4

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