假三体13与常染色体隐性全前脑畸形
Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
作者信息
Seller M J, Chitty L S, Dunbar H
机构信息
South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
出版信息
J Med Genet. 1993 Nov;30(11):970-1. doi: 10.1136/jmg.30.11.970.
Abstract
Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
摘要
两名在产前被诊断出的同胞患有前脑无裂畸形、面中部发育不全且染色体正常。第一名胎儿还患有多指畸形。这个同胞关系可能代表常染色体隐性假三体13的一个例子。
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