Diaphragmatic herniae and translocations involving 8q22 in two patients.
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.
Temple
I K
IK
Wessex Clinical Genetics Service, Level G, Princess Anne Hospital, Southampton, UK.
Barber
J C
JC
James
R S
RS
Burge
D
D
D002898:Chromosomes, Human, Pair 8; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic