1940例遗传咨询者染色体核型分析  

Analysis of chromosome karyotype of 1940 genetic counseling cases

作　　者：唐玉芬[1] 聂俊玮[1] 杨生宙[1] 刘沃满 

机构地区：[1]茂名市妇幼保健院检验科,广东茂名525000

出　　处：《中国热带医学》2014年第2期148-150,共3页China Tropical Medicine

摘　　要：目的探讨染色体异常与临床的关系,给优生优育干预提供科学依据。方法对2007-2013年11月1 940例遗传咨询者进行外周血淋巴细胞培养,常规G显带法进行细胞核型分析,必要时加做C带或N带。结果 1 940例遗传咨询者共检出异常核型297例,异常率为15.31%。其中唐氏综合征151例,占50.84%,易位23例,占7.74%,倒位40例,占13.47%,Turner综合征13例,占4.38%,X-三体综合征3例,占1.01%,性反转综合征4例,占1.35%。异态染色体52例,占17.51%,其他染色体数目及结构异常11例,占3.70%。结论染色体畸变是儿童智力低下,先天畸形,性征发育异常,成人不孕不育、不良生育史等的重要原因之一。Objective To probe into the relationship between the abnormal chromosome and clinical diseases. Method The peripheral blood lymphocytefrom 1 940 genetic counseling cases consulted in our hospital from 2007 to November 2013. and the karyotype was analyzed with G banding method or even with C banding or N banding method used when necessary. Result Among 1 940 genetic counseling cases, abnormal karyotype ocuurred to 297 cases with the abnormal rate of 15.31% including 151 cases（50.84%） with Down＇s syndrome, 23 cases（7.74%）with translocation, 40 cases（13.47%） with inversion, 13 cases（4.38%） with Tumer syndrome, 3 cases（1.01%） with X- Trisomy syndrome, 4 cases（1.35%） with sex reverse syndrome, 52 cases（17.51%） with heteromorphic chromosome and 11 cases（3.70%） with abnormal chromosome number and structure. Conclusion The chromosome aberration is one of the principal factors resulting in mental retardation, congenital malformation, abnormal sexual developmentin children and infertility and abnormal childbearing history in adult females/males.

关 键 词：染色体异常 21-三体综合征 不良生育史 性反转综合征 

分 类 号：R394[医药卫生—医学遗传学]