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Clinical and genetic heterogeneity in X-linked deafness
W Reardon1, H R Middleton-Price, S Malcolm
1Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
British Journal of Audiology
|April 1, 1992
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.