Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome

被引：31

作者：

Consevage, MW

Seip, JR

Belchis, DA

Davis, AT

Baylen, BG

Rogan, PK

机构：

[1] PENN STATE UNIV,COLL MED,DEPT PEDIAT,HERSHEY,PA

[2] PENN STATE UNIV,COLL MED,DEPT PATHOL,HERSHEY,PA

来源：

AMERICAN JOURNAL OF CARDIOLOGY | 1996年 / 77卷 / 11期

关键词：

D O I：

10.1016/S0002-9149(97)89165-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hemizygosity within chromosome 22q11 has been associated with CATCH 22 syndrome. Although hypoplastic left heart syndrome is rarely observed in CATCH 22, we have used fluorescence in situ hybridization to detect a mosaic 22q11 deletion in an infant with hypoplastic left heart syndrome.

引用

页码：1023 / &

页数：4

共 4 条

[1] THE IMPORTANCE OF GENETIC MOSAICISM IN HUMAN-DISEASE [J].