Case Reports
doi: 10.1136/jmg.28.9.639.
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome
Affiliations
- PMID: 1956066
- PMCID: PMC1015799
- DOI: 10.1136/jmg.28.9.639
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Case Reports
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome
J Med Genet.
1991 Sep.
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.
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