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Article

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

The Journal of pediatrics - 1 Dec 2004

Stevenson David A, Carey John C, Cowley Brett C, Bayrak-Toydemir Pinar, Mao Rong, Brothman Arthur R

Abstract excerpt

We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of gen...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 4
Share to In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15580214
DOI: 10.1016/j.jpeds.2004.08.027

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15580214-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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