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听骨链单侧固定与G组染色体缺失相关。

Unilateral fixation of the ossicular chain associated with G-group chromosome deletion.

作者信息

Jagiello G, Faiman C

出版信息

Can Med Assoc J. 1967 May 27;96(21):1405-7.

Abstract

Unilateral fixation of the middle ear ossicles and possible delayed pubescence were associated with a short-arm deletion of one of the G-group chromosomes in a 15-year-old Negro girl. A similar chromosomal abnormality was found in the mother and three of six siblings without any clinical evidence of middle ear disease. The association of G-group deletions with other hereditary disease of bone suggests, however, that a pathogenic relationship may exist between them.

摘要

一名15岁黑人女孩中耳听小骨单侧固定及可能的青春期发育延迟与G组染色体之一的短臂缺失有关。在其母亲及六个兄弟姐妹中的三个身上发现了类似的染色体异常,但他们均无中耳疾病的临床证据。然而,G组缺失与其他遗传性骨病的关联表明,它们之间可能存在致病关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e82/1922965/9070248d6e98/canmedaj01217-0011-a.jpg

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