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J Med Genet. 1991 Sep;28(9):639-40.

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

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1
Department of Human Genetics, University of Newcastle upon Tyne.

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.

PMID:
1956066
PMCID:
PMC1015799
[Indexed for MEDLINE]
Free PMC Article
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