Clinical and genetic heterogeneity in X-linked deafness
- 1 January 1992
- journal article
- Published by Taylor & Francis in British Journal of Audiology
- Vol. 26 (2) , 109-114
- https://doi.org/10.3109/03005369209077878
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.Keywords
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