通过BudR处理鉴定出性腺发育不全46,X,del(X)(p22)中X染色体的部分缺失。
Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BudR treatment.
作者信息
Petrinelli P, Antonelli A, Gabellini P, Gigliani F, Marcucci L, Nicoletti B
出版信息
Hum Genet. 1978 Dec 29;45(3):351-4. doi: 10.1007/BF00278734.
PMID:738735
Abstract
In this report we describe a deletion of the short arm of the X chromosome in a 16-year-old female with gonadal dysgenesis. The breakpoint was localized by BUdR treatment and acridine orange staining in region 2, band 2. Of the examined cells, 3% showed an early replication of the deleted X chromosome.
摘要
在本报告中，我们描述了一名患有性腺发育不全的16岁女性的X染色体短臂缺失情况。通过溴脱氧尿苷（BUdR）处理和吖啶橙染色，将断点定位在2区2带。在所检查的细胞中，3%显示出缺失的X染色体早期复制。
Zotero 插件