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环状(15)染色体。

Ring (15) chromosome.

作者信息

Yunis E, Leibovici M, Quintero L

出版信息

Hum Genet. 1981;57(2):207-9. doi: 10.1007/BF00282025.

Abstract

Cytogenetic studies on lymphocytes from a girl aged 3 years and 10 months revealed revealed a ring chromosome 15. Several banding methods showed the r(15) chromosome not to have any apparent deletion of the long arm. The silver staining technique for nucleolar organizer regions showed an NOR positive region (band p12). In only a few cells was a chromosome 15 missing. The size of the r(15) was found to be constant. Comparison with 11 previous reported cases in the literature shows that the clinical manifestations in the different patients with ring chromosome 15 are constant although not clinically identifiable and it appears likely to attribute them to a significantly retarded intrauterine and postnatal growth instead of presumed deficiency in the long arm and mosaic configurations.

摘要

对一名3岁10个月女童的淋巴细胞进行的细胞遗传学研究显示存在一条15号环状染色体。几种显带方法表明r(15)染色体的长臂没有明显缺失。核仁组织区的银染技术显示一个核仁组织区阳性区域(带p12)。仅在少数细胞中15号染色体缺失。发现r(15)的大小恒定。与文献中先前报道的11例病例比较表明,不同的15号环状染色体患者的临床表现是恒定的,尽管在临床上无法识别,而且似乎将其归因于宫内和出生后生长明显迟缓,而非推测的长臂缺陷和嵌合构型。

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