Ontology highlight
ABSTRACT:
SUBMITTER: Klaassens M
PROVIDER: S-EPMC1550781 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
Klaassens M M Scott D A DA van Dooren M M Hochstenbach R R Eussen H J HJ Cai W W WW Galjaard R J RJ Wouters C C Poot M M Laudy J J Lee B B Tibboel D D de Klein A A
American journal of medical genetics. Part A 20060701 14
Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH. Partial trisomy 11q and partial trisomy 22 associated with the common t(11;22) has been reported in several cases of CDH. It has been assumed that the diaphragmatic defect seen in these individual ...[more]