Diaphragmatic herniae and translocations involving 8q22 in two patients.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 7815446.
- Also identified by PMC identifier 1050088.
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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.
Medical subject headings
- Chromosomes, Human, Pair 8
- Hernia, Diaphragmatic
- Translocation, Genetic