Related Experiment Videos
Diaphragmatic herniae and translocations involving 8q22 in two patients
I K Temple1, J C Barber, R S James
1Wessex Clinical Genetics Service, Level G, Princess Anne Hospital, Southampton, UK.
Journal of Medical Genetics
|September 1, 1994
Abstract:
Two girls with congenital diaphragmatic herniae are reported. Both were discovered to have a balanced reciprocal translocation involving 8q22.3. In one girl the translocation was de novo, in the other it was maternally inherited. Uniparental disomy was excluded in both. 8q22.3 may be the location of a gene affecting development of the diaphragm.