title: Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant.
abstract: We report on a liveborn premature male with trisomy 22 who had multiple congenital anomalies, including congenital diaphragmatic hernia and absence of corpus callosum. He died of pulmonary hypoplasia associated with diaphragmatic hernia within 12 hours of age. Chromosome analysis by multiple banding techniques based on lymphocyte culture confirmed that he had trisomy 22. This may be the first report of congenital diaphragmatic hernia and isolated absence of corpus callosum associated with trisomy 22.
authors.affiliation: Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, CA 95128.
authors.forename: E H
authors.initials: EH
authors.lastname: Kim
authors.forename: R S
authors.initials: RS
authors.lastname: Cohen
authors.forename: P
authors.initials: P
authors.lastname: Ramachandran
authors.forename: A K
authors.initials: AK
authors.lastname: Mineta
authors.forename: V R
authors.initials: VR
authors.lastname: Babu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002892:Chromosomes, Human, Pair 22; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics*; D008297:Male; D011859:Radiography; D014314:Trisomy