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
收藏
页码：647 / 650
页数：4
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