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Br J Audiol. 1992 Apr;26(2):109-14.

Clinical and genetic heterogeneity in X-linked deafness.

Author information

1
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.

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.

PMID:
1628115
DOI:
10.3109/03005369209077878
[Indexed for MEDLINE]

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