DIAPHRAGMATIC HERNIAE AND TRANSLOCATIONS INVOLVING 8Q22 IN 2 PATIENTS

Authors
TEMPLE IK BARBER JCK JAMES RS BURGE D
Citation
Ik. Temple et al., DIAPHRAGMATIC HERNIAE AND TRANSLOCATIONS INVOLVING 8Q22 IN 2 PATIENTS, Journal of Medical Genetics, 31(9), 1994, pp. 735-737
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
9
Year of publication
1994
Pages
735 - 737
Database
ISI
SICI code
0022-2593(1994)31:9<735:DHATI8>2.0.ZU;2-K
Abstract
Two girls with congenital diaphragmatic herniae are reported. Both wer e discovered to have a balanced reciprocal translocation involving 8q2 2.3. In one girl the translocation was de novo, in the other it was ma ternally inherited. Uniparental disomy was excluded in both. 8q22.3 ma y be the location of a gene affecting development of the diaphragm.