Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.

doi:10.1111/j.1399-0004.2007.00870.x

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Article

Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.

Clinical genetics - 1 Oct 2007

Swanepoel D

Abstract excerpt

5p-(cri-du-chat syndrome) is a well-defined clinical entity presenting with phenotypic and cytogenetic variability. Despite recognition that abnormalities in audition are common, limited reports on auditory functioning in affected individuals are available. The current study presents a case illustrating the auditory functioning in a 22-month-old patient diagnosed with 5p- syndrome, karyotype 46,XX,del(5)(p13)....

Topics

Chromosome Aberrations
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome
Cytogenetics
Electrophysiology
Female
Genotype
Hearing Loss
Humans
Infant
Karyotyping
Nervous System Diseases
Phenotype
Syndrome
beta Catenin

Source

Open in PubMed

Identifiers

PMID: 17850635
DOI: 10.1111/j.1399-0004.2007.00870.x

Provenance

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