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Article

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

American journal of medical genetics. Part A - 1 Sept 2011

Cyr Andrew B, Nimmakayalu Manjunath, Longmuir Susannah Q, Patil Shivanand R, Keppler-Noreuil Kim M, Shchelochkov Oleg A

Abstract excerpt

Larger imbalances on chromosome 4p in the form of deletions associated with Wolf-Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype-phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21815251
DOI: 10.1002/ajmg.a.34120

Genes

FGFR3
LETM1
TACC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.PMID 21815251Read ↗

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.Semantic proximity Read ↗

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

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

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

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

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