论文部分内容阅读
各种染色体病给人类造成了极大危害。对染色体异常的深入研究和预防是优生学的主要课题之一。我院对600例疑有染色体异常的患儿进行了遗传咨询及常规外周血染色体分析,部分智力障碍儿童进行了脆性X染色体分析,对性畸形的患儿在细胞遗传学的基础上应用分子遗传学PCR和Southern技术分析。现将其中染色体异常患儿161例,包括35种异常核型及部分罕见病例报告如下。 1 对象及方法
A variety of chromosomal diseases have caused great harm to humans. In-depth study and prevention of chromosomal abnormalities is one of the major topics in eugenics. Our hospital 600 cases of suspected chromosomal abnormalities in children with genetic counseling and routine peripheral chromosomal analysis of some children with mental retardation X fragile X chromosome analysis of children with sexual deformity in cytogenetics based on molecular genetic Learn PCR and Southern techniques. Now 161 cases of chromosomal abnormalities in children, including 35 kinds of abnormal karyotype and some rare cases are reported as follows. 1 object and method