【摘要】 目的对本院遗传室遗传咨询检出的371例遗传病患者的遗传病类型分布及携带者进行总结和分析,指导遗传咨询工作。方法采用家系谱分析、细胞遗传学检查染色体核型分析方法,对咨询者进行检测与分析,确定遗传病种类,检出携带者。结果 1 314例咨询者,检出遗传病患者371例,其中基因病88例,染色体异常283例,染色体异常中智力低下108例,不良生育史及其他症142例,染色体平衡改变携带者33例。常染色体显性遗传病(AD)14种49例患者,常染色体隐性遗传病(AR)5种9例患者,X连锁隐性遗传病(XR)1种13例患者,多基因遗传病4种5例患者。通过染色体检查,确定智力低下患儿中有先天愚型患儿47,XY,+21 40例,47,XX,+21 27例,嵌合型4例,罗氏易位型5例,共76例。其他各种染色体异常32例。在不良生育史咨询者中,检出罗氏易位携带者、平衡易位携带者、Turner′s、小睾丸症、超雌综合症、XYY综合征、倒位携带者、脆性X染色体携带者共62例。结论智力低下和不良生育史是染色体病再发的高危因素,必须重视并做好产前诊断。更多还原

【Abstract】 Objective This paper summarized and analyzed the distribution of genetic diseases in 371 patients with hereditary diseases or carriers in genetic counseling. Methods The pedigree analysis,cytogenetics and chromosome karyotype analysis were used to determine the genetic diseases and the carriers. Results Of the 1 314 cases,371 cases of hereditary disorder were detected,including genetic disease in 88 cases,abnormal chromosome in 283 cases. There were108 mental retardation cases,142 poor fertility cases with other diseases,and 33 carrier cases of chromosome balance change in the chromosome abnormality. 14 types of autosomal dominant hereditary disease(AD)were found in 49 patients,5 types of autosomal recessive hereditary disease(AR)were found in 9 patients,1 type of X-linked recessive hereditary disease(XR)in 13 patients,4 types of multiple-factor inheritance disease in 5 patients. Through checking chromosome,we make sure that 76 Down′ s syndrome cases and 32 cases other chromosomal abnormalities were mental retardation children. In adverse reproductive history consulter,we checked out 62 abnormal karyotypes included the Robertson translocation carriers,balanced translocation carriers,Turner′s,small testicular disorder,XXX syndrome,XYY syndrome and inversion carriers,fragile X chromosome carriers. Conclusion Mental retardation and multiple abortions are the risk factors for recurrence of chromosomal disorders,and therefore we must pay attention to the prenatal diagnosis.更多还原