1例13号环状染色体合并6号染色体末端重排核型的确定及遗传咨询  

Identification of a Ring Chromosome 13 Combined with Terminal Rearrangement of Chromosome 6 and Genetic Counseling

作　　者：谭玉梅[1] 谭跃球[2] 许晓清[1] 宋丹[1] 吴方贵[1] 钱卫平[1] 

机构地区：[1]深圳市罗湖医院生殖医学中心,518001 [2]中南大学生殖与干细胞工程研究所,长沙410078

出　　处：《国际遗传学杂志》2007年第6期401-403,408,共4页International Journal of Genetics

摘　　要：目的确定1例13号环状染色体合并6号染色体末端重排核型,并为其生育提供指导。方法1例有生育畸胎史的患者,染色体检测发现携带环状染色体,6号染色体短臂增长,选用6号和13号染色体特异性涂染探针进行荧光原位杂交分析。结果确定其核型为环状13号染色体合并13号染色体长臂远端部分与6号染色体短臂的末端重排。结论这是1例罕见的可能起源于三断裂的结构重排。根据减数分裂形成配子的规律,她仍有生育正常孩子的可能性,但必须进行产前诊断确保正常婴儿的出生。Objective To determine the karyotype of a case with ring chromosome 13 and chromosome 6 terminal rearrangement, and provide a valuable guidance for pregnancy. Methods Fluorescence in situ hybridization（FISH） with a whole chromosome 6 specific painting probe and a whole chromosome 13 specific painting probe, were used to l analyze a ease with history of pregnancy of deformation child and ring chromosome and 6p addition detected by conventional G banding technique. Results The patient＇ s karyotype is ring chromosome 13, combination with terminal rearrangement between chromosome 13q distant segment and chromosome 6 terminal segment. Conclusion The karyotype is a uniusual structural rearrangement, which is originalted from three-breakage. According to the rule of gametes production by meiosis, the patient has the probability of giving birth to a normal child, but must carry out prenatal diagnosis to obtain a normal child.

关 键 词：环状染色体 末端重排 遗传咨询 荧光原位杂交 

分 类 号：R394[医药卫生—医学遗传学]