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
1
Sex-linked hereditary deafness.性连锁遗传性耳聋
Am J Hum Genet. 1955 Jun;7(2):201-3.
2
Sex-linked deaf-mutism.
Ann Hum Genet. 1963 Feb;26:195-9. doi: 10.1111/j.1469-1809.1963.tb01975.x.
3
Sex-linked deafness of a possibly new type.一种可能新型的性连锁耳聋
Acta Genet Stat Med. 1960;10:54-62. doi: 10.1159/000151118.
4
Congenital deafness due to a sex-linked recessive gene.由性连锁隐性基因引起的先天性耳聋。
Am J Hum Genet. 1958 Jun;10(2):196-200.
5
Sex-linked albinism associated with deafness.
Ala J Med Sci. 1966 Oct;3(4):479-82.
6
Sex-linked congenital deafness.性连锁先天性耳聋
Am J Hum Genet. 1969 Sep;21(5):415-22.
7
Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism.伴有白化病的性连锁遗传性耳聋综合征女性携带者的听力障碍。
J Med Genet. 1969 Jun;6(2):132-4. doi: 10.1136/jmg.6.2.132.
8
Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.耳-腭-指综合征：男性与女性临床表现及影像学表现的比较
Am J Hum Genet. 1972 Jan;24(1):24-36.
9
Giemsa banding patterns of human chromosomes.人类染色体的吉姆萨带型
Clin Genet. 1972;3(3):169-79. doi: 10.1111/j.1399-0004.1972.tb01455.x.
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