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  • Title: Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).
    Author: Cremers CW, Huygen PL.
    Journal: Int J Pediatr Otorhinolaryngol; 1983 Nov; 6(2):179-85. PubMed ID: 6662621.
    Abstract:
    A new pedigree with 9 obligate and 10 probable female carriers of the X-linked mixed deafness syndrome is presented. In the male the syndrome is characterized by a perilymphatic gusher during stapes surgery, a severe progressive mixed hearing loss and lack or strong reduction of vestibular responses. Four of the 9 obligate heterozygote females show similar but much milder audiological abnormalities. The other five obligate female carriers have a normal audiogram. None of the obligate female carriers showed vestibular abnormalities such as observed in the affected males. Ten females, sisters of affected males, have a chance of 50% to be heterozygote carriers. Five of these females have also a hearing loss, the other 5 have normal audiograms. The relevance of these findings for genetic counseling and for identification of affected males is discussed.
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