胎儿水肿作为产前染色体分析的指征：以因家族性15/17易位导致的15q11和17q25重复的诊断为例
Hydrops fetalis as an indication for prenatal chromosome analysis with the example of the diagnosis of a duplication 15q11 and 17q25 due to a familial translocation 15/17.
作者信息
Schwanitz G, Zerres K, Niesen M, Haverkamp F, Schmid G
机构信息
Institut für Humangenetik, Universität Bonn, FRG.
出版信息
Ann Genet. 1988;31(3):186-9.
PMID:3066282
Abstract
A child with a combined trisomy 15q11 and 17q25 shows the typical phenotype of partial duplication 17q. The male fetus developed in the 3rd trimenon of pregnancy a nonimmune hydrops fetalis (NIHF). Analysing the chromosomes of 54 cases with NIHF during the 2nd and 3rd trimenon and after birth we found chromosomal abnormalities in 33% of them.
摘要
一名患有15q11和17q25联合三体综合征的儿童表现出典型的17q部分重复的表型。该男性胎儿在妊娠晚期出现了非免疫性胎儿水肿（NIHF）。在分析妊娠中期和晚期以及出生后54例NIHF病例的染色体时，我们发现其中33%存在染色体异常。
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