A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 1956066.
- Also identified by PMC identifier 1015799.
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Abstract
A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 3
- De Lange Syndrome
- Translocation, Genetic