Case Reports
A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype
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- PMID: 15844775
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Case Reports
A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype
Genet Couns.
2005.
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.
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