Diaphragmatic hernia in tetrasomy 12p mosaicism.
作者信息
Bergoffen J, Punnett H, Campbell T J, Ross A J, Ruchelli E, Zackai E H
机构信息
Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.
出版信息
J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2.
PMID:8463911
Abstract
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.
摘要
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