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Article

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

American journal of medical genetics. Part A - 1 May 2016

Sperry Ethan D, Schuette Jane L, van Ravenswaaij-Arts Conny M A, Green Glenn E, Martin Donna M

Abstract excerpt

CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein. Here, we present a 15-year-old girl with clinical features...

Topics

Abnormalities, Multiple
CHARGE Syndrome
Child
Chromosomes, Human, Pair 2
DNA Copy Number Variations
DNA Helicases
DNA-Binding Proteins
Female
Gene Duplication
Genetic Testing
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

SOXC Transcription Factors

Trisomy

Source

Open in PubMed Open full text

Identifiers

PMID: 26850571
DOI: 10.1002/ajmg.a.37592
PMCID: PMC5117441

Genes

SOX11
CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Duplication 2p25 in a child with clinical features of CHARGE syndrome.PMID 26850571Read ↗

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often AnticipatedSemantic proximity Read ↗

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.Semantic proximity Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Semantic proximity Read ↗

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.Semantic proximity Read ↗

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsSemantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

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Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.Semantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

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