Ye L Z, Zhang A D, Shi H P, Zhao S M, Luo H Y, Yuan L F, Ma S W, Li S H, Cheng Z Y, Zhao Y
Proc Chin Acad Med Sci Peking Union Med Coll. 1989;4(3):126-30.
An analysis of 4628 cases in the genetic counseling clinic of PUMC Hospital is reported. Althogether 966 cases (20.87%) were diagnosed as having genetic diseases, among whom were 436 cases (45.13%) with chromosome aberrations, 161 (16.67%) with inherited metabolic diseases, 111 (11.49%) with constitutional bone diseases, 103 (10.66%) with various kinds of genetic neuromuscular diseases, 109 (11.28%) with different dysmorphic syndromes, and 46 (4.76%) with different kinds of genetic dermatoses and oculopathies. 973 cases (21.02%) were suspected to suffer from some form of genetic disease, but this could not be proved due to a lack of specific diagnostic methods. 2689 cases (58.10%) were found to be unaffected by inherited diseases. Some of the experiences gained and the key role of genetic counselling in family planning are briefly discussed.
本文报道了对北京协和医院遗传咨询门诊4628例病例的分析。共有966例（20.87%）被诊断患有遗传性疾病，其中436例（45.13%）为染色体畸变，161例（16.67%）为遗传性代谢疾病，111例（11.49%）为体质性骨病，103例（10.66%）为各种遗传性神经肌肉疾病，109例（11.28%）为不同的畸形综合征，46例（4.76%）为各种遗传性皮肤病和眼病。973例（21.02%）疑似患有某种形式的遗传性疾病，但由于缺乏特异性诊断方法而无法得到证实。2689例（58.10%）被发现未受遗传性疾病影响。文中简要讨论了所获得的一些经验以及遗传咨询在计划生育中的关键作用。
