%0 Journal Article
%T Clinical Research of Genetic Counseling
优生与遗传咨询的临床研究
%A Shu-yu Wang
%A Su-gui Wang
%A Guo-qing Ren
%A Chan-wei Jia
%A Yan-min Ma
%A Hong Xue
%A
王树玉
%A 王素桂
%A 任国庆
%A 贾婵维
%A 马延敏
%A 薛虹
%J 遗传
%D 2002
%I
%X To supply reliable materials for the assessment of recurrence risk,prenatal diagnosis and the supervision of high risk persons,we analyzed 10811 patients with the methods of cytogenetics,fluorescent in situ hybridization and molecular genetic PCR methods.The result of cytogenetics:there were 555 abnormal karyotypes of peripheral blood on 5390 cases (10.30%);In 2171 patients who asked for prenatal diagnosis,145 abnormal karyotypes were found (6.68%);We also karyotyped chorionic villous cells of 62 patients with spontaneous abortion and found 28 abnormal karyotypes (45.16%).The PCR results of 23 patients with Down's syndrome were all positive while the results of 155 normal persons were all negative.The method of cytogenetics is very important for diagnosis of abnormal karyotypes;Molecular genetic methods by PCR and FISH are quick,convenient and applicable way.
%K genetic counseling
%K prenatal diagnosis
%K karyotypes abnormal
%K molecular genetics
优化
%K 遗传咨询
%K 临床研究
%K 产前诊断
%K 染色体异常
%K 分子遗传学
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=6B18E8181FD016C9&yid=C3ACC247184A22C1&vid=B91E8C6D6FE990DB&iid=B31275AF3241DB2D&sid=250DF325A002B9CC&eid=20C9FB8C7B4A22AD&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=6