A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
Open Access
- 1 September 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (9) , 639-640
- https://doi.org/10.1136/jmg.28.9.639
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.Keywords
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