摘要
本文运用达达哌(DA/DAPI)显带技术,并结合多种细胞遗传学技术对1例人类额外小染色体(mar)的显带特征及其起源进行了研究,还就其构成与表型效应的关系进行了探讨。结果查明,本例mar携带者的核型为47,XY,+psu dic(15)(pter→cen→q11.2::q11.2→pter),同时提示语言障碍和生育力低下,可能与15q11.2的重复相关。
To investigate the banding properties and the origin of a human extra small nhromosome (mar), various banding techciques including DA/DAPI banding techique were used. Analysis of the correlation ketween the phenotype of the carrier and the constitution of the mar was made. The results showed that the karyotype of the carrier could be descri(?)ed as 47, XY, +psu dic (15) (pter→cen→q11. 2:: q11.2→pter), and the speech trouble and subfertility might be related to the duplication: of 15q11.2.
出处
《遗传与疾病》
CSCD
北大核心
1989年第2期72-73,127+130,共2页
关键词
染色体
达达哌技术
遗传
咨询
Extra small chromosome DA/DAPI technique Human chromosome Genetic counselling
