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Ann Genet. 2002 Oct-Dec;45(4):173-5.

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

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  • 1Department of Medical Genetics, CHUV, Lausanne, Switzerland.

Abstract

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

PMID:
12668162
[PubMed - indexed for MEDLINE]
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