Diaphragmatic hernia in tetrasomy 12p mosaicism.
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.
Bergoffen
J
J
Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.
Punnett
H
H
Campbell
T J
TJ
Ross
A J
AJ
Ruchelli
E
E
Zackai
E H
EH
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