青春期表现出的感音神经性听力损失的X连锁隐性遗传。
X-linked recessive inheritance of sensorineural hearing loss expressed during adolescence.
作者信息
Pelletier L P, Tanguay R B
出版信息
Am J Hum Genet. 1975 Sep;27(5):609-13.
Abstract
Eight males in 4 generations with hearing impairment were observed in a kindred; family transmission suggested X-linked recessive inheritance. In previously reported cases of X-linked sensorineural hearing loss, hearing impairment was usually severe to profound and was either present at birth or manifested by 5 years of age. In the present cases, rapid onset of a bilateral sensorineural hearing loss occurred during adolescence and did not generally progress beyond moderate impairment. Significant deterioration in seech production did not usually result.
摘要
在一个家族中观察到4代8名男性患有听力障碍；家族遗传显示为X连锁隐性遗传。在先前报道的X连锁感音神经性听力损失病例中，听力障碍通常为重度至极重度，要么出生时就存在，要么在5岁前出现。在本病例中，双侧感音神经性听力损失在青春期迅速发作，一般不会进展到中度以上的损害。通常不会导致语音产生的显著恶化。
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引用本文的文献
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A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.一种与Xp21.2相关的新型非综合征性X连锁感音神经性听力障碍。
Am J Hum Genet. 1994 Oct;55(4):685-94.
本文引用的文献
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