MOSAICISM FOR DELETION 17P11.2 IN A BOY WITH THE SMITH-MAGENIS SYNDROME

被引：24

作者：

FINUCANE, BM

KURTZ, MB

BABU, VR

SCOTT, CI

机构：

[1] NICHOLS INST,SAN JUAN CAPISTRANO,CA

[2] ALFRED I DUPONT INST,WILMINGTON,DE 19899

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 04期

关键词：

FIBROBLAST STUDIES; CONTIGUOUS GENE SYNDROME; SELF-INJURIOUS BEHAVIOR;

D O I：

10.1002/ajmg.1320450410

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a 14-year-old boy with physical and behavioral manifestations of the Smith-Magenis syndrome. Low level mosaicism (11%) for deletion 17p11.2 was found in peripheral blood lymphocytes. The deletion was also observed in 100% of metaphases examined from skin fibroblast cultures. We confirm that the Smith-Magenis syndrome is associated with a highly recognizable phenotype. Because evidence of the abnormal cell line may be minimal or absent in peripheral blood, fibroblast studies are indicated for patients in whom mosaicism for deletion 17p11.2 is suspected clinically.

引用

页码：447 / 449

页数：3

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