产前诊断为22号染色体完全单体的迪格奥尔格综合征。
Digeorge syndrome with total monosomy 22 diagnosed prenatally.
作者信息
Merino A, De Perdigo A, Nomballais F, Yvinec M, Lopes P
机构信息
Laboratoire de Cytogénétique Anténatale, Centre Hospitaliez et Universitaire de Nantes, France.
出版信息
Prenat Diagn. 1995 Feb;15(2):189-92. doi: 10.1002/pd.1970150215.
PMID:7784374
Abstract
A case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy revealed several abnormalities associated with DiGeorge syndrome.
摘要
报告了一例产前诊断为22号染色体单体性的病例。孕期时，超声检查在第25周就已发现胎儿有多处心脏畸形。咨询后，终止了妊娠。胎儿尸检发现了与迪格奥尔格综合征相关的多处异常。
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