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Genet Couns. 2005;16(1):27-30.

A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.

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  • 1Ege University Hospital, Department of Pediatrics, Bornova-Izmir, Turkey.

Abstract

Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8) (p11.2;q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2;q24.3) was not reported so far in Cornelia de Lange syndrome.

PMID:
15844775
[PubMed - indexed for MEDLINE]
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