18号染色体单体及18号环状染色体嵌合体的产前诊断
Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism.
作者信息
Eiben B, Unger M, Stoltenberg G, Rutt G, Goebel R, Meyer A, Gamerdinger U, Hammans W, Hansen S, Hauss H
机构信息
Institut für Klinische Genetik, Oberhausen, Germany.
出版信息
Prenat Diagn. 1992 Nov;12(11):945-50. doi: 10.1002/pd.1970121114.
PMID:1494547
Abstract
The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.
摘要
本文报告了一例经羊膜腔穿刺术产前检测出的18号单体/18号环状染色体嵌合体病例。妊娠于第18周终止。尸检显示胎儿存在复杂畸形，包括无脑畸形、眼距过窄、小眼畸形、严重脑发育缺陷以及胎盘成熟停滞。
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