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Article

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

American journal of medical genetics. Part A - 1 Sept 2012

Strehle Eugen-Matthias, Yu Linbo, Rosenfeld Jill A, Donkervoort Sandra, Zhou Yulin, Chen Tian-Jian, Martinez Jose E, Fan Yao-Shan, Barbouth Deborah, Zhu Hongbo, Vaglio Alicia, Smith Rosemarie, Stevens Cathy A, Curry Cynthia J, Ladda Roger L, Fan Zheng Jane, Fox Joyce E, Martin Judith A, Abdel-Hamid Hoda Z, McCracken Elizabeth A, McGillivray Barbara C, Masser-Frye Diane, Huang Taosheng

Abstract excerpt

Chromosome 4q deletion syndrome (4q- syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes craniofacial, developmental, digital, skeletal, and cardiac involvement. Data on the genotype-phenotype correlation within the 4q arm are limited. We present detailed clinical and genetic information by array CGH on 20 patients with 4q...

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

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Source

Identifiers

PMID: 22847869
DOI: 10.1002/ajmg.a.35502

Genes

ANK2
BMP3
DMP1
DUX4
FGF2
GRID2
HAND2
IBSP
MAPK10
NEUROG2
PITX2
PKD2
SPARCL1

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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