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Article

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.

American journal of medical genetics - 19 Feb 1999

Zollino M, Wright T J, Di Stefano C, Tosolini A, Battaglia A, Altherr M R, Neri G

Abstract excerpt

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre- and post-natal growth retardation, anteverted and low-set ears, that can be considered as nonspecific signs, generally attributable to gene dosage impairment. On the other hand, more distinctive phenotypic...

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Share to Chromosome Banding
Share to Chromosomes, Human, Pair 4

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

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PMID: 10069706

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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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"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.PMID 10069706Read ↗

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.Semantic proximity Read ↗

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

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

Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

[Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation].Semantic proximity Read ↗

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

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

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.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 ↗

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.Semantic proximity Read ↗

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