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一例20三体综合征病例?

A case of trisomy 20?

作者信息

Wahlström J, Borsgärd J, Sabel K G

出版信息

Clin Genet. 1976 Feb;9(2):187-91. doi: 10.1111/j.1399-0004.1976.tb01566.x.

Abstract

Chromosome determination in a girl who at birth had an abnormal appearance and a cat's cry, and later a poor weight gain and psychomotor retardation, showed a probable trisomy of chromosome pair no. 20. The analysis was made by means of photometric examination of G-banded chromosomes from lymphocyte cultures. The deviating chromosome was identified in fibroblast cultures as well.

摘要

一名出生时外貌异常且伴有猫叫综合征,后来体重增加缓慢且有精神运动发育迟缓的女孩,染色体检测显示可能存在20号染色体三体。分析是通过对淋巴细胞培养的G带染色体进行光度检查来进行的。在成纤维细胞培养物中也鉴定出了异常染色体。

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