Diaphragmatic herniae and translocations involving 8q22 in two patients.
- 1 September 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (9) , 735-737
- https://doi.org/10.1136/jmg.31.9.735
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.Keywords
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