Isolated sacral agenesis in a fetus monosomic for 7q36.1->qter

被引：17
|
作者：
Savage, NM
Maclachlan, NA
Joyce, CA
Moore, IE
Crolla, JA
机构：
[1] JERSEY MATERN HOSP,ST HELIER,JERSEY,ENGLAND
[2] SOUTHAMPTON GEN HOSP,SOUTHAMPTON SO16 6YD,HANTS,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 10期
基金：
英国惠康基金;
关键词：
sacral agenesis; 7q36;
D O I：
10.1136/jmg.34.10.866
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II> A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further.
引用
收藏
页码：866 / 868
页数：3
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