title: Clinical and genetic heterogeneity in X-linked deafness.
abstract: The use of molecular techniques in respect of the rare X-linked non-syndromic form of genetic deafness demonstrates that this is a genetically heterogeneous disorder, with evidence for at least two separate gene loci on the X chromosome. Audiological heterogeneity in this condition is emphasized by the observation of both mixed deafness and sensorineural deafness in pedigrees showing evidence for linkage to Xq13-q21. The importance and shortcomings of the audiogram in assessing females who are known gene carriers is discussed.
authors.affiliation: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: H R
authors.initials: HR
authors.lastname: Middleton-Price
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
authors.forename: P
authors.initials: P
authors.lastname: Phelps
authors.forename: S
authors.initials: S
authors.lastname: Bellman
authors.forename: L
authors.initials: L
authors.lastname: Luxon
authors.forename: J A
authors.initials: JA
authors.lastname: Martin
authors.forename: A
authors.initials: A
authors.lastname: Bumby
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations / Q000209:etiology / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000209:etiology / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D015336:Molecular Probe Techniques; D010375:Pedigree; D012737:Sex Factors; D014960:X Chromosome