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

Perrin, Y.; Addor, M.C.; Sekarski, N.; Gaide, A.C.; Schorderet, D.F.

doi:10.1016/S0003-3995(02)01135-8

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

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Serval ID

serval:BIB_E1FDAFD9B1A8

Type

Article: article from journal or magazin.

Publication sub-type

Case report (case report): feedback on an observation with a short commentary.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Annales de Génétique

Author(s)

Perrin Y., Addor M.C., Sekarski N., Gaide A.C., Schorderet D.F.

ISSN

0003-3995

Publication state

Published

Issued date

2002

Peer-reviewed

Oui

Volume

Number

Pages

173-175

Language

english

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.

Keywords

Aorta, Chromosomes, Human, Pair 14, Female, Humans, Infant, Newborn, Karyotyping, Lung, Syndrome, Trisomy

OAI-PMH

oai:serval.unil.ch:BIB_E1FDAFD9B1A8

DOI

10.1016/S0003-3995(02)01135-8

Pubmed

12668162

Web of science

000181918900002

Create date

28/02/2008 11:52