摘要
目的 分析Klinefelter综合征病人精子X ,Y ,18染色体的非整倍体率 (aneuploid) ,指导其辅助生育治疗。方法 应用荧光原位杂交 (FISH)检测 1例射出的少量精子X ,Y和 18号染色体 ,计算精子染色体非整倍体率 ,用卵胞浆内单精子注射 (ICSI)治疗。结果 ICSI前后拾取形态正常的精子 ,进行FISH后有荧光信号的精子数为 15 6条 ,其中正常 18/X精子有82条 (5 2 6 % ) ,18/Y精子有 74条 (4 7 4 % ) ,未发现异常的精子信号。ICSI治疗后获得双胎妊娠 ,孕 19w产前诊断 ,2个胎儿的染色体核型分别是 4 6 ,XY和 4 6 ,XX。孕 36w分娩 1男婴和 1女婴。结论 ISH分析证实Klinefelter综合征病人可以产生正常精子 。
Objective: To analysis the aneuploidy rate of X, Y and 18 chromosomes of sperms from a patient of Klinefelter's syndrome and to guide the assisted reproductive treatment. Methods: Analyze and calculate the aneuploidy rate of X, Y and 18 chromosomes of fewer amount of ejaculate sperm with fluorescence in-situ hybridization(FISH). Intracytoplasmic sperm injection(ICSI) was performed. Results: Sperms were picked up before and after ICSI. Among totally 156 sperms which had fluorescence signal after FISH, 82(52.6%) sperms were normal X sperms and 74(47.4%) were normal Y sperms. A twin pregnancy were achieved. The chromosomes of the two fetus were identified as 46,XY and 46,XX after a prenatal diagnosis were done on 19 weeks gestation. A health twin (a boy and a girl) were born with caesarean section on 36 weeks gestation. Conclusion: FISH analysis on sperms of patient with Klinefelter's syndrome indicated that normal sperm can be produced. Normal babies can be born after ICSI in patient with Klinefelter's syndrome who have sperm.
出处
《中国优生与遗传杂志》
2004年第4期111-112,110,F003,共4页
Chinese Journal of Birth Health & Heredity
