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[15号染色体卫星区增大与遗传性耳聋]

[Chromosome 15 satellite enlargement and hereditary deafness].

作者信息

Zhuang J, Hu X, Zhang B

机构信息

Fujian Provincial People's Hospital, Fuzhou.

出版信息

Zhonghua Er Bi Yan Hou Ke Za Zhi. 1994;29(4):225-7.

PMID:7803123
Abstract

The clinical and cytologic examinations in 6 deaf patients from 2 genealogical trees with chromosomal 15 satellite enlargement, karyotype 46, XY(X), PS++(15) are reported. A proband as well as his brother and sister suffered from phenotype with gradual hearing loss at the age of 12 to 13 and big satellite 15 existed in chromatinic karyotype. His father's phenotype was normal, but karyotype was the same as the 3 siblings of the proband, which suggested that the abnormal chromosome may originate from the father. The proband as well as his mother and uncle from family tree 2 may all suffer from dysaudia in both ears without any cause and with rapid exacerbation of the disease and deafness at last, 1 to 2 years after birth. Based on the fact that they had similar clinical phenotype and karyotype, their delayed deaf-mutism may be related to the structural abnormality of chromosome 15. An examination of the proband's grandparents showed that both phenotype and karyotype were normal. The abnormal chromosome from the proband's mother and uncle may originate from a new mutation. Obviously, the proband's abnormal chromosome originates from the mother. It is estimated that such chromosomal structural abnormality may be caused by some hearing genetic effects.

摘要

报告了来自2个系谱树的6名聋哑患者的临床和细胞学检查情况,这些患者染色体15卫星增大,核型为46, XY(X), PS++(15)。一名先证者及其兄弟姐妹在12至13岁时出现渐进性听力丧失的表型,染色质核型中存在大的15号卫星。其父亲表型正常,但核型与先证者的3个兄弟姐妹相同,这表明异常染色体可能源自父亲。来自系谱树2的先证者及其母亲和舅舅可能均双耳患有听力障碍,无任何病因,疾病迅速加重,最终在出生后1至2年失聪。基于他们具有相似的临床表型和核型,他们的迟发性聋哑可能与15号染色体的结构异常有关。对先证者祖父母的检查表明,其表型和核型均正常。先证者母亲和舅舅的异常染色体可能源自新的突变。显然,先证者的异常染色体源自母亲。据估计,这种染色体结构异常可能是由某些听力遗传效应引起的。

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