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A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

Lookup NU author(s): Professor Sir John BurnORCiD

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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.

Publication metadata

Author(s): Ireland M, English C, Cross I, Houlsby WT, Burn J

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 1991

Volume: 28

Issue: 9

Pages: 639-640

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