LymphedemaV1, Main, Exploration, bibRecord, 004722

Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Identifieur interne : 004722 ( Main/Exploration ); précédent : 004721; suivant : 004723

Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Auteurs : M. Carmen Carrascosa Romero [Espagne] ; Rosa García Hoyo [Espagne] ; María Calvente [Espagne] ; María Baquero Cano [Espagne] ; Llanos González Castillo [Espagne] ; Javier Suela [Espagne]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-04.

RBID : ISTEX:6E64755141070F2AC074F4AA7C66D43324C59CC7

Abstract

A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array‐CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. © 2012 Wiley Periodicals, Inc.

Url:

https://api.istex.fr/document/6E64755141070F2AC074F4AA7C66D43324C59CC7/fulltext/pdf

DOI: 10.1002/ajmg.a.35237

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 003373
to stream Istex, to step Curation: 003373
to stream Istex, to step Checkpoint: 000419
to stream Main, to step Merge: 004747
to stream Main, to step Curation: 004722

Le document en format XML

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<front><div type="abstract" xml:lang="en">A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array‐CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. © 2012 Wiley Periodicals, Inc.</div>
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Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri