对一例新的布卢姆综合征病例进行细胞遗传学研究。
Cytogenetic investigations in a new case of Bloom's syndrome.
作者信息
Sperling K, Goll U, Kunze J, Lüdtke E K, Tolksdorf M, Obe G
出版信息
Hum Genet. 1976 Jan 28;31(1):47-52. doi: 10.1007/BF00270398.
PMID:1248822
Abstract
Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chromosomes. The average frequency of sister chromatid exchanges (SCE) in lymphocytes with 133 was much higher than in skin fibroblasts with 49. The inter- and intrachromosomal distributions of SCE in lymphocytes were analyzed.
摘要
对一名患有典型但症状较轻的布卢姆综合征的8岁白种女孩进行的细胞遗传学研究显示，同源染色单体易位和染色体过早浓缩有特征性增加。淋巴细胞中姐妹染色单体交换（SCE）的平均频率为133，远高于皮肤成纤维细胞中的49。分析了淋巴细胞中SCE的染色体间和染色体内分布。
Zotero 插件