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近20余年来,由于医学遗传学的迅速发展,对小儿遗传性疾病的研究和报道日趋增多,对遗传性疾病的认识也愈来愈清楚。开展遗传咨询,及时诊断遗传性疾病,尽早采取预防和治疗措施,对控制遗传病的发病率是很重要的。我院自1982年成立遗传室后,开展了遗传咨询及染色体检查工作,现就218例病孩中的几种主要疾病分析如下。对象和方法本文收集了1982年6月～1984年6月,本院住院、门诊和儿保门诊的疑似遗传性疾病的0～14岁患孩共218例,详细询问了个人史、家族史,做了包括皮纹在内的全面体格检查。218例中有214例做了染色体检查,均采用外周淋巴细胞培养(白血病患者作骨髓培
In the recent 20 years, due to the rapid development of medical genetics, the research and reports on pediatric hereditary diseases have been increasing. The cognition of genetic diseases is also getting clearer and clearer. To carry out genetic counseling, timely diagnosis of genetic diseases, early prevention and treatment measures taken to control the incidence of genetic diseases is very important. Our hospital since 1982, the establishment of genetic room, carried out genetic counseling and chromosome examination work, now 218 cases of the disease in several major diseases are analyzed as follows. Subjects and Methods This study collected 218 cases of children aged 0-14 years admitted to our hospital from June 1982 to June 1984 with suspicion of hereditary diseases such as inpatient, outpatient and child care clinics. We asked in detail about personal history, family history, Made a comprehensive physical examination including dermatoglyphics. Of the 218 cases, 214 had a chromosomal test using peripheral lymphocyte cultures (leukemia patients with bone marrow