Kokitsu-Nakata Nancy Mizue, Guion-Almeida Maria Leine, Richieri-Costa Antonio
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.
Am J Audiol. 2004 Dec;13(2):99-103. doi: 10.1044/1059-0889(2004/013).
Hearing loss constitutes an important category of congenital defects that can be isolated or part of the phenotypic spectrum of several syndromes. A clinical genetic study was performed on a sample of 144 patients with nonsyndromic hearing loss, establishing the sex distribution, type, degree, symmetry, laterality, progression, etiology, and, when possible, inheritance pattern.
听力损失是先天性缺陷的一个重要类别，可单独出现，也可是几种综合征表型谱的一部分。对144例非综合征性听力损失患者的样本进行了临床遗传学研究，确定了性别分布、类型、程度、对称性、侧别、进展情况、病因，并在可能的情况下确定了遗传模式。
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