Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome.
作者信息
Young I D, Duckett D P, O'Reilly K M
机构信息
Department of Child Health, Leicester Royal Infirmary, England.
出版信息
Ann Genet. 1989;32(1):62-4.
PMID:2751252
Abstract
A lethally malformed neonate with mosaic tetrasomy 12p is presented. This is the third reported case of mosaic tetrasomy 12p to have died in the neonatal period. These three babies have shown a consistent phenotype characterized by dysmorphic facies and large diaphragmatic hernia. Mosaic tetrasomy 12p is usually not detectable from lymphocyte investigation, indicating that chromosome studies from cultured fibroblasts should be undertaken in neonates with multiple malformations which include a diaphragmatic defect.
摘要
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