罕见外周血中单个染色体畸变临床特征及遗传学分析-中南大学学报.pdfVIP

BU L L HU N AN M ED U N IV 2003, 28( 4) 375 1 2 3 陈胜湘 , 刘 丽 , 伍汉文 ( 1. 中南大学湘雅医学院人类生殖研究室, 长沙4 1000 8; 2. 辽宁省锦州市好婴医院遗传室, 锦州12 1000 ; 3 . 中南大学湘雅二医院内分泌 , 长沙4 10011) [ ] 目的: 探讨外周血中单 个染色体畸变的主要临床特征及其 传学分析方法: 采用外周血常规培养 法, 培养72 h 后收获制片G 式显带, 读片及染色体核型分析, 以每30 , 60 , 200 个分裂相中找到 1~ 2 个异常染色 体核型作为单 个染色体畸变的诊断标准结果: 52 例外周血单 个染色体畸变的临床主要特征包括 自然流产; 性发育异常; ! 生育疾患; ∀病残者结论: 外周血中的单 个染色体畸变应归属染色体疾患的范畴这种染色体的 个体生育后代时应做产前诊断 [ ] 单 个染色体畸变; 临床特征; 传学 [ ] Q8 13 . 4 [ ] A [ ] 200 3) 040 37504 Clinical characteristics and geneti c analysis of rare chromosome aberration in peri pheral blood 1 2 3 CHEN Shengx ang , L IU L , WU H anwen ( 1.H unan Rep roduction Engineering Research Institute, Xiangya School of Medicine, Central South University, Changsha 4 10008; 2. epartment of Genetics, Woman and Inf antH osp ital, Jinz hou 12 1000; 3. epartment of Endocrinology, Second X iangya Hospi tal, Central South University, Changsha 4 100 11, China) Abstract: Objective T o nvest gate t he ma n cl n cal charact er st cs and g enet c analys s of rare chromosome aberrat on n per pheral blood . Methods Per pheral blood cells w ere cult ured f or 72 hours w t h rout ne met hod and sl ds performed, and t hen the sl de w as read and mode analys s w as carr ed out. T he d ag nost c st andard of rare chromosomal aberat on w as: 1~ 2 abnorm al kary t ypes were f ound n every 30, 60, 200 m t ot c phass. Results T he ma n cl n cal character s t cs of 52 cases of nd v dual chromosomal aberat on n per pheral blood ncluded: spont aneous abort on ; abnormal se