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Article

Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

BioMed research international - 1 Jan 2013

Venegas-Vega Carlos A, Fernández-Ramírez Fernando, Zepeda Luis M, Nieto-Martínez Karem, Gómez-Laguna Laura, Garduño-Zarazúa Luz M, Berumen Jaime, Kofman Susana, Cervantes Alicia

Abstract excerpt

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

Share to In Situ Hybridization, Fluorescence

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 23484094
DOI: 10.1155/2013/209204
PMCID: PMC3581116

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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