Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
case_report · Level V
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- Record sourced from PubMed, PMID 1583645.
- Also identified by PMC identifier 1015925.
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Abstract
A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.
Medical subject headings
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 2
- Osteochondrodysplasias
- Translocation, Genetic