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Article

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

American journal of medical genetics. Part A - 1 Nov 2009

Vera-Carbonell Ascensión, Bafalliu Juan Antonio, Guillén-Navarro Encarna, Escalona Ariadna, Ballesta-Martínez María J, Fuster Carme, Fernández Asunción, López-Expósito Isabel

Abstract excerpt

Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Artificial, Bacterial

Share to Chromosomes, Human, Pair 5

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Identifiers

PMID: 19842199
DOI: 10.1002/ajmg.a.33055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.PMID 19842199Read ↗

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