THE 8P-SYNDROME

被引：29

作者：

REISS, JA

BRENES, PM

CHAMBERLIN, J

MAGENIS, RE

LOVRIEN, EW

机构：

[1] KAISER PERMANENTE MED CTR,DEPT PEDIAT,OAKLAND,CA 94611

[2] CRIPPLED CHILDRENS DIV,PORTLAND,OR 97201

来源：

HUMAN GENETICS | 1979年 / 47卷 / 02期

关键词：

D O I：

10.1007/BF00273195

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p- karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient. © 1979 Springer-Verlag.

引用

页码：135 / 140

页数：6

共 14 条

[1]

BASS HN, 1974, TRISOMY, V8, pA11

[2] SMALL STRUCTURAL-CHANGES OF CHROMOSOME-8 - 2 CASES WITH EVIDENCE FOR DELETION [J].