Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

doi:10.1002/ajmg.1320440427

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Article

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

American journal of medical genetics - 1 Nov 1992

Reardon W, Roberts S, Phelps P D, Thomas N S, Beck L, Issac R, Hughes H E

Abstract excerpt

A structural cochlear abnormality has been observed by high resolution CT scanning in some families where X-linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence...

Topics

Child
Cochlea
Deafness
Female
Gene Deletion
Genetic Linkage
Humans
Infant
Male
Pedigree
Phenotype
Sex Chromosome Aberrations
Tomography, X-Ray Computed
X Chromosome

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