title: Diaphragmatic hernia in tetrasomy 12p mosaicism.
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.
authors: Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.
authors: J
authors: J
authors: Bergoffen
authors: H
authors: H
authors: Punnett
authors: T J
authors: TJ
authors: Campbell
authors: A J
authors: AJ
authors: Ross
authors: E
authors: E
authors: Ruchelli
authors: E H
authors: EH
authors: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism