一个显示X连锁遗传的家系中Dandy-Walker畸形的产前诊断。

Prenatal diagnosis of Dandy-Walker malformation in a family displaying X-linked inheritance.

作者信息

Cowles T, Furman P, Wilkins I

机构信息

Department of Obstetrics, Gynecology, University of Texas, Medical School, Houston 77030.

出版信息

Prenat Diagn. 1993 Feb;13(2):87-91. doi: 10.1002/pd.1970130203.

DOI:10.1002/pd.1970130203

PMID:8464840

Abstract

The diagnosis of Dandy-Walker malformation was made on the ultrasonographic evaluation of a 33-week male fetus. Pedigree analysis revealed a family history of isolated Dandy-Walker malformation in three other males, suggesting an X-linked recessive inheritance pattern.

摘要

通过对一名33周龄男性胎儿的超声评估，诊断为丹迪-沃克畸形。家系分析显示，另外三名男性有孤立性丹迪-沃克畸形的家族史，提示为X连锁隐性遗传模式。