经绒毛取样诊断的帕利斯特-基利安综合征
Pallister-Killian syndrome diagnosed by chorionic villus sampling.
作者信息
Sharland M, Hill L, Patel R, Patton M
机构信息
Department of Genetics, St George's Hospital Medical School, Tooting, London, U.K.
出版信息
Prenat Diagn. 1991 Jul;11(7):477-9. doi: 10.1002/pd.1970110712.
PMID:1754566
Abstract
The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.
摘要
本文介绍了通过绒毛取样对帕利斯特-基利安综合征进行的首例产前诊断。孕早期超声检查发现胎儿水肿，核型显示12号染色体短臂等臂染色体嵌合体。
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