特殊特纳综合征1例孕妇的遗传学分析

目的 通过1例特殊特纳综合征孕妇的多种遗传学检测分析,探讨特纳综合征的临床表型及遗传学特点,为该类遗传咨询和临床治疗提供依据.方法 对1例无创DNA产前检测技术(NIPT)检测X染色体异常的孕妇进行遗传学分析,羊水穿刺采用羊水细胞培养及染色体制备技术及荧光原位杂交(FISH)技术分析胎儿染色体;采用染色体核型分析技术及荧光原位杂交技术分析孕妇外周血及口腔脱落细胞.结果 NIPT检测结果显示母体X染色体有缺失;经羊水核型分析,胎儿染色体正常;孕妇外周血染色体核型结果:45,XO;孕妇口腔黏膜脱落细胞FISH结果:47,XXX(65%)/45,XO(23%)/46,XX(12%).结论 将细胞遗传学、分子遗传学以及分子细胞遗传学技术结合使用后能够有效提升特纳综合征诊查的准确性,精准的诊断能够为患有该症患者的遗传咨询以及临床诊治提供参考依据.

Genetic analysis of a pregnant woman with special Turner's syndrome

Objective To explore clinical manifestation and genetic characterisitcs of Turner's syndrome through various genetic testing and analysis of a pregnant woman with special Turner's syndrome,so as to provide basis for consultation and treatment of such genetic disease.Methods Genetic analysis was carried out on a pregnant woman with X chromosome abnormality detected by non-invasive prenatal test(NIPT).Fetal chromosomal analysis was implemented by culture of amniotic cell collected through amniocentesis,chromosome preparation and fluorescence in situ hybridization(FISH).Maternal peripheral blood and mouth desquamated cells were analyzed by karyotype analysis and FISH analysis.Results NIPT results showed deletion in maternal X chromosome.Karyotype analysis of amniotic cell showed that fetal chromosome was normal.Maternal peripheral blood karyotyping result was 45,XO.Maternal mouth desquamated cell FISH result was 47,XXX(65%)/45,XO(23%)/46XX(12%).Conclusion Combination of cytogenetics,molecular genetics and molecular cytogenetic technology can effectively improve the diagnostic accuracy of Turner's syndrome,and accurate diagnosis provides reference for genetic counseling and clinical treatment of this disease.