论文部分内容阅读
目的过门诊遗传咨询和产前诊断7995例遗传咨询患者染色体检查结果进行分析研究。方法抽取抗凝静脉血0.3-0.5ml及经孕妇知情同意后,行羊膜腔穿刺采取羊水细胞培养,制片、G显带核型分析,染色体微缺失患者采用全基因组拷贝数检测。结果受检外周血染色体检测5961例,发现染色体异常核型395例,检出率为6.63%,其中9例染色体异常核型为国内外资料未见报道;羊水细胞染色体核型分析2033例,发现染色体异常135例,检出率为6.64%;1例染色体微缺失患者染色体15q11.2-13.1区域杂合缺失5Mb。结论在开展细胞遗传学包括外周血及羊水细胞染色体检查的基础上,对综合征的一部分疑似病例,应进行染色体微缺失的检查,并对遗传咨询中遇到的染色体多态性进行了讨论。
Objective Through outpatient genetic counseling and prenatal diagnosis of 7,995 cases of genetic counseling patients with chromosomal test results were analyzed. Methods 0.3-0.5ml anticoagulant venous blood was drawn and informed consent was obtained from pregnant women. Amniotic fluid cell culture was performed by amniocentesis. The karyotype of G-banding was determined by the amniocentesis. The genome-wide copy number was used to detect the chromosomal microdeletions. Results 5961 cases of chromosomal detection of peripheral blood were detected, 395 cases of chromosomal abnormalities were detected, the detection rate was 6.63%, of which 9 cases of chromosomal abnormalities karyotype data were not reported at home and abroad; amniotic fluid chromosome karyotype analysis of 2033 cases found that Chromosome abnormalities in 135 cases, the detection rate was 6.64%; 1 case of chromosome microdeletions in chromosome 15q11.2-13.1 heterozygous deletion of 5Mb. Conclusions On the basis of cytogenetics including chromosomal examination of peripheral blood and amniotic fluid cells, chromosomal microdeletions should be examined for some suspected cases of syndrome and chromosomal polymorphisms encountered in genetic counseling are discussed.