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目的研究一个可能为X染色体显性遗传的先天性单一镫骨畸形家系的发病机制、相关基因、听力学特点及遗传特征。方法对所有家系成员都询问病史,进行体格、纯音测听、声阻抗等检查,部分患者还接受了高分辨率颞骨CT检查和免疫学检查;对先证者进行染色体核型分析,并实施了左耳的人工镫骨安装手术。结果经检查可以排除综合征性耳聋。该家系连续3代以上发病,女性发病机会较男性大。患病的母亲可将致病基因传给下一代,患病的父亲则未能传给儿子。听力检查显示,他们的耳聋呈传导性,骨、气导差都≤40dB,声阻抗检查均为A型曲线,颞骨高分辨CT可显示正常的内耳结构。在先证者的手术中发现其镫骨呈扁圆柱型且缺少足板,染色体核型分析显示核型为46,XX。结论该家系中的患者们有着单一的先天性镫骨畸形伴固定的特征,家系分析显示为可能X染色体显性遗传。
Objective To study the pathogenesis, related genes, audiological features and genetic characteristics of a pedigree of congenital monastic tarsal deformity which may be X-chromosome dominant inheritance. Methods All family members were asked history, physical examination, pure tone audiometry, acoustic impedance and other tests, some patients also received high-resolution temporal bone CT examination and immunological examination; proband for karyotype analysis and implementation Left ear artificial tarsal installation surgery. The results can be ruled out after checking the syndrome deafness. The pedigree incidence of more than 3 generations, women have greater chance of onset than men. Sick mothers pass on the causative genes to their next generation, and sick sons fail to pass on to their sons. Hearing tests showed that their deafness was conductive, bone, air conduction were ≤ 40dB, acoustic impedance tests are type A curve, temporal bone high resolution CT can show normal inner ear structure. In the proband’s surgery found that its tarsal was oblate cylindrical lack of foot plate, karyotype analysis showed karyotype 46, XX. Conclusions Patients in this pedigree have a single congenital tarsal deformity with fixed characteristics, and pedigree analysis suggests possible X-chromosome dominance.