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Article

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

American journal of human genetics - 1 Mar 2003

Zollino Marcella, Lecce Rosetta, Fischetto Rita, Murdolo Marina, Faravelli Francesca, Selicorni Angelo, Buttè Cinzia, Memo Luigi, Capovilla Giuseppe, Neri Giovanni

Abstract excerpt

In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients carrying a 4p16.3 microdeletion were analyzed for their clinical phenotype and their respective genotypes. The extent of each individual deletion was established by fluorescence in situ hybridization, with a cosmid contig spanning the genomic region from MSX1...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 4

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

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Share to Infant, Newborn

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Share to Transcriptional Elongation Factors

Source

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Identifiers

PMID: 12563561
DOI: 10.1086/367925
PMCID: PMC1180235

Genes

LETM1
MSX1

Provenance

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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Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.PMID 12563561Read ↗

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designationSemantic proximity Read ↗

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second caseSemantic proximity Read ↗

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.Semantic proximity Read ↗

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.Semantic proximity Read ↗

Wolf-Hirschhorn syndrome: A case series from India.Semantic proximity Read ↗

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Semantic proximity Read ↗

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.Semantic proximity Read ↗

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.Semantic proximity Read ↗

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.Semantic proximity Read ↗

A Familial Chromosome 4p16.3 Terminal Microdeletion That Does Not Cause Wolf-Hirschhorn (4p-) syndromeSemantic proximity Read ↗

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