Chromosome 22q11 deletion presenting as the Potter sequence

被引：41

作者：

Devriendt, K

Moerman, P

VanSchoubroeck, D

Vandenberghe, K

Fryns, JP

机构：

[1] UNIV HOSP LEUVEN,DEPT PATHOL 1,B-300 LOUVAIN,BELGIUM

[2] UNIV HOSP LEUVEN,DEPT OBSTET & GYNECOL,B-300 LOUVAIN,BELGIUM

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 05期

关键词：

chromosome; 22q11; velocardiofacial syndrome; kidney; Potter sequence;

D O I：

10.1136/jmg.34.5.423

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Kuster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no urological anomalies. This observation further extends the clinical spectrum associated with a deletion in 22q11.

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收藏

页码：423 / 425

页数：3

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