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Article

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

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

Bedoyan Jirair K, Lesperance Marci M, Ackley Todd, Iyer Ramaswamy K, Innis Jeffrey W, Misra Vinod K

Abstract excerpt

Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide-based comparative genomic hybridization...

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Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 21204225
DOI: 10.1002/ajmg.a.33751
PMCID: PMC4533830

Genes

DUSP22
FOXC1
FOXF2
FOXQ1

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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