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Article

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

American journal of medical genetics. Part A - 1 Apr 2012

Carrascosa Romero M Carmen, García Hoyo Rosa, Calvente María, Baquero Cano María, González Castillo Llanos, Suela Javier

Abstract excerpt

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...

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Share to Agenesis of Corpus Callosum
Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22407779
DOI: 10.1002/ajmg.a.35237

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22407779-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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