迪乔治综合征复发：通过荧光原位杂交技术产前检测22q11分子缺失。
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
作者信息
Van Hemel J O, Schaap C, Van Opstal D, Mulder M P, Niermeijer M F, Meijers J H
机构信息
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
出版信息
J Med Genet. 1995 Aug;32(8):657-8. doi: 10.1136/jmg.32.8.657.
Abstract
We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.
摘要
我们报告了一例通过荧光原位杂交（FISH）对与迪格奥尔格综合征（DGS）相关的家族性22q11缺失进行的产前诊断。该缺失在患有完全型DGS症状的先证者、身体正常的父亲以及随后的一次妊娠中均被发现。出生后，这个孩子出现了低钙血症、T细胞缺陷以及右侧主动脉弓。
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