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[纳希切万自治共和国人群中的先天性和遗传性听力障碍]

[Congenital and hereditary hearing disorders in population of the Nakhichevan Autonomous Republic].

作者信息

Panakhiian V M

出版信息

Vestn Otorinolaringol. 2004(6):22-4.

Abstract

The role of the hereditary factor in prevalence, incidence and structure of congenital and hereditary hearing disorders was studied in population of the Nakhichevan Autonomous Republic. Audiological (tuning fork test and audiometry) and clinico-genealogical examinations, karyotyping were made in 86 probands of 240 patients with hypoacusis and deafness. Among congenital and hereditary hearing disorders, prevalent were deafness and deaf-mutism. There was also a high percentage of blood relative marriages and primarily an autosomal-recessive type of inheritance. Regarding correction of inbreeding coefficient, it is recommended for families with the genetic risk to seek medico-genetic consulting.

摘要

在纳希切万自治共和国的人群中,研究了遗传因素在先天性和遗传性听力障碍的患病率、发病率及结构中的作用。对240例听力减退和失聪患者中的86名先证者进行了听力学检查(音叉试验和听力测定)、临床系谱检查及染色体核型分析。在先天性和遗传性听力障碍中,耳聋和聋哑较为常见。近亲结婚的比例也很高,且主要为常染色体隐性遗传类型。关于近亲繁殖系数的校正,建议有遗传风险的家庭寻求医学遗传学咨询。

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