Analysis of 4628 cases in the genetic counselling clinic of PUMC Hospital.

Proceedings of the Chinese Academy of Medical Sciences and the Peking Union Medical College = Chung-kuo i hsueh k'o hsueh yuan, Chung-kuo hsieh ho i k'o ta hsueh hsueh pao Pub Date : 1989-01-01

L Z Ye, A D Zhang, H P Shi, S M Zhao, H Y Luo, L F Yuan, S W Ma, S H Li, Z Y Cheng, Y Zhao

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Abstract

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.

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北京协和医院遗传咨询门诊4628例分析

对北京协和医院遗传咨询门诊4628例进行分析。诊断为遗传性疾病966例(20.87%)，其中染色体畸变436例(45.13%)，遗传性代谢性疾病161例(16.67%)，体质性骨病111例(11.49%)，各种遗传性神经肌肉疾病103例(10.66%)，各种畸形综合征109例(11.28%)，各种遗传性皮肤病和眼病46例(4.76%)。973例(21.02%)被怀疑患有某种形式的遗传疾病，但由于缺乏具体的诊断方法而无法证实。2689例(58.10%)未患遗传病。本文简要讨论了所取得的一些经验和遗传咨询在计划生育中的关键作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Proceedings of the Chinese Academy of Medical Sciences and the Peking Union Medical College = Chung-kuo i hsueh k'o hsueh yuan, Chung-kuo hsieh ho i k'o ta hsueh hsueh pao

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