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25例天使综合征患者中15q11 - 13缺失的母系起源

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.

作者信息

Smith J C, Webb T, Pembrey M E, Nichols M, Malcolm S

机构信息

Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.

出版信息

Hum Genet. 1992 Feb;88(4):376-8. doi: 10.1007/BF00215668.

Abstract

About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parental origin was determined using cytogenetic markers in 13 of the cases, in nine by using the pattern of inheritance of restriction fragment length polymorphisms, and in three using both techniques.

摘要

约半数的天使综合征病例源于染色体15q12带的缺失。在我们研究的25例病例中,已能够确定缺失片段的亲本来源,并且与其他报道的病例一致,我们发现缺失源自母体。无一例外。13例病例通过细胞遗传学标记确定亲本来源,9例通过限制性片段长度多态性的遗传模式确定,3例同时使用这两种技术确定。

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