Cytogenetical analysis on 5828 cases of genetic counseling patients

Objective:This study was designed to investigate the incidence of abnormal karyotype in genetic counseling patients,and confer the relationship between chromosomal abnormalities and disease emergence and development from LinYi district.Methods: The peripheral blood lymphocytes were cultured and analyzed by the G-band technique,or C-band technique when necessary.Results: The chromosomal analysis was made in 5828 genetic counseling patients with a history of abnormal pregnancy,infertility,primary and secondary amenorrhea,mental retardation or congenital malformation etc.We found 805 cases of abnormal karyotype with 146 types,the percent is 13.81 %(805/5828).Thereinto,616 cases were autosomal abnormalities,this percent is 76.52 %(616/805),there also had 189 cases of sex chromosome abnormalities,the percent is 23.48 %(189/805).The abnormal chromosomes include all the 24 chromosomes.Conclusions: Chromosome abnormalities are one of the important reasons of abnormal pregnancy,infertility,abnormal sexual development and mental retardation etc.It is very necessary to give planning guidance to genetic counseling patients.