中文摘要：

目的分析一个X连锁遗传性聋大家系的临床听力学特征及遗传规律。方法通过家系调查、对家系成员进行全面体查及听力学检查，总结遗传规律，绘制遗传图谱并进行听力学特征分析。结果家系成员（含已故和配偶）共计106人，家系中男性患者9人，分布于第二代和第四代，耳聋发生于5～15岁，呈进行性加重，成年（18岁）后表现为双侧对称全频下降的重度至极重度感音神经性听力下降。女性患者7人，分布于第三代，于40岁后开始出现听力下降，表现为单侧中重度或双侧轻到中度感音神经性听力下降。结论本家系的临床听力学特征及遗传系谱分析符合X连锁显性遗传。

英文摘要：

Objective To study the phenotype and genetic characteristic of a Chinese family with hereditary deafness. Methods Pedigree was drawn after genetic investigation. The most of family members were checked up , and detailed audiology examination performed （including pure tone audiometer , acoustic immittance measurement） . Vestibular function was evaluated. Results This Chinese family with late onset hearing impairment spanned five generations and comprised 106 members. The medical history and the vestibular symptoms were obtained using of a standard questionnaire. General physical examination, otoscopic examination and pure tone audiometry were performed to identify the hearing impairment and other abnormality. The affected nine males from generation Ⅱ and Ⅳ showed progressive sensorineural hearing loss with the onset from 5 to 15 years. The affected seven females manifes- ted a mild to moderate bilateral or moderate to severe unilateral hearing impairment with the delayed onset from the fourth decade of life. Oonclusion The pedigree of this family is consistent with an X-link dominant inheritance pattern.