González-Ferrer S, Pineda-Del Villar L, Brito-Brito J, Prieto-Carrasquero M, Rojas-Atencio A, Angarita-Avila L, Mena-González J C, Mena-González R, Bermúdez J, Martínez-Basalo M
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Venezuela.
Invest Clin. 1995 Jun;36(2):47-60.
The Medical Genetics Unit at Universidad del Zulia (UGM-LUZ) gives counsel to patients with partial and total genetic diseases. Counseling is available for patients of both sexes and all ages, from public and private health centers and several medical specialities. In the present study an analysis of 4617 clinical records from families referred for genetic counseling to the UGM-LUZ is given. The study spans from January 1983 to December 1992. Fifty four (1.2%) of these histories correspond to pre-nuptial counseling, 773 (16.7%) pre-conceptional, 316 (6.8%) pre-natal and 3474 (75.3%) for diagnosis. A computerized system was developed, based on relational data base manager, that permits access with interactive Dbase type applications. A total of 5433 diagnoses were made. The most frequent causes of genetic diseases were chromosomal abnormalities (12.32%), mainly Down and Turner syndromes. Mendelian diseases occupied 14.45% of all cases, with Marfan and Noonan syndrome, Osteogenesis imperfecta. Duchenne-Becker muscular dystrophy and Incontinentia Pigmenti as the most frequent syndromes. Diseases that involve multifactorial inheritance, such as neural tube defects, accounted for 7.36% of all diagnosis. Effects of teratogenic agents such as german measles, radiations and others were detected in 3.96% of all cases. In 8.5% of the patients a hereditary factor was suspected. No definitive diagnosis was reached in 32.45% of all cases and 20.96% of the patients were normal. The need for data from other medical genetic centers is stressed. In this way the regional and national genetic diseases on morbidity can be known.
苏利亚大学医学遗传学部门（UGM-LUZ）为患有部分和全部遗传性疾病的患者提供咨询服务。面向来自公立和私立健康中心以及多个医学专科的所有年龄段的男女患者提供咨询。在本研究中，对转诊至UGM-LUZ进行遗传咨询的家庭的4617份临床记录进行了分析。研究时间跨度为1983年1月至1992年12月。其中54份（1.2%）病史对应婚前咨询，773份（16.7%）孕前咨询，316份（6.8%）产前咨询，3474份（75.3%）用于诊断。开发了一个基于关系数据库管理器的计算机系统，该系统允许通过交互式数据库类型应用程序进行访问。总共做出了5433例诊断。遗传性疾病最常见的病因是染色体异常（12.32%），主要是唐氏综合征和特纳综合征。孟德尔疾病占所有病例的14.45%，其中马凡综合征和努南综合征、成骨不全症、杜兴-贝克肌营养不良症和色素失禁症是最常见的综合征。涉及多因素遗传的疾病，如神经管缺陷，占所有诊断的7.36%。在所有病例的3.96%中检测到致畸剂如风疹、辐射等的影响。在8.5%的患者中怀疑有遗传因素。在所有病例的32.45%中未得出明确诊断，20.96%的患者正常。强调了需要其他医学遗传中心的数据。通过这种方式，可以了解区域和国家遗传性疾病的发病率。
