Abstract:Objective To explore the relationship of chromosome anomaly and polymorphism with adverse pregnancy outcomes. Methods Cytogenetic data for 1 191 couples with adverse pregnancy outcomes who visited Sichuan Provincial Hospital for Women and Children during August 2008 to March 2013 were reviewed and analyzed. Peripheral blood lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- banding in some cases. Results Of the 1 191 cases examined, forty-four cases had abnormal chromosome (3.7%) and 145 cases had polymorphic variations (12.2%). Chromosome polymorphic variations accounted for 76.7% of all chromosome karyotypes. Among them, 84 cases showed D/G set with body variant, 36 cases had increases in secondary constriction, 8 cases had increased satellite, 7 cases showed inversion of the ninth chromosomes, 7 case had large Y chromosome, 2 cases showed inversion of the Y chromosomes, and 1 case had X chromosome with body variant. Conclusion Chromosome anomalies were common among couples with repeated spontaneous abortion, embryo arrest, stillbirth, and fetal or infant malformations.
1 陈竺.医学遗传学.北京:人民卫生出版社,2002:58. 2 Makino T,Hara T,Oka C.Survey of 1120 Japanese women with a history of recurrent spontaneous abortion.Eur J Obstet Gynecol Biol,1992,44:123-130. 3 张月萍,庄依亮.2071例自然流产患者染色体核型分析及临床意义.中华妇产科杂志,2000,35:178. 4 高淑英,康琳,宋黎丽,等.反复流产夫妇染色体异常的实验室诊断分析.中国优生与遗传杂志,2004,12:38. 5 张成宁,刘永章,主编.医学遗传学.北京:科学出版社,2002:223-224. 6 Ruma B,Anita H,Cami KD,et al.Parental origin and timing of de Novo Robertsonian translocation formation.Am J Hum Genet,2002,71:1456-1462. 7 Rieder CL,Salmon ED.The vertebrate cell kinelochore and its roles during mitosis.Trends Cell Biol,1998,8:310-318 8 玉平,高春生,王玉梅,等.自然流产一家系15p+染色体的分子细胞遗传学研究.中华医学遗传学杂志,1992,9:205 9 李丽莎,任红进,宁郁玲,等.138例染色体多态的细胞遗传学分析及临床表现.中华医学遗传学杂志,2007,6:36. 10 Zhimulev IF,Beliaeva ES.Heterochromatain,gene position effect and gene silencing.Genetika,2003,39:187-201. 11 任爱玲,郑梅玲,丁琰.SRY基因诊断在临床中的应用.中国优生与遗传杂志,1999,7:34. 12 郭玉萍,唐吟宇,张静.Y染色体异常的细胞遗传学研究及其临床效应分析.中国优生与遗传学杂志,2003,11:48-49. 13 田佩玲,叶嘉玲,陈平乐,等.大Y染色体核型376例分析.中国男科学杂志,2004,18:32-33. 14 Patricia B,Maria S,Carole AS.Divergent outcomes of intrachromosomal recombination on the human Y chromosome:male infertility andrecurrent polymorphism.J Med Genet,2000,37:752-758. 15 夏家辉,李麓芸.染色体病.北京:科学出版社,1989:273.