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1990年5月1日~1994年4月30日,对在我院确诊为智力低下(MR)患者中与遗传因素有关的162例(占16%)进行分析。结果:农村77.8%,城市22.2%;男女之比2.45:1;轻度38.3%,重度61.7%;染色体病中21三体最多占63.4%;脆性X综合征占24%,其中女性2例,均为重度MR。先天代谢疾病主要是克汀病和苯丙酮尿症,占22.2%。遗传变性病占病因的25.3%,其中结节性硬化27例占16.7%。提示:遗传因素所致的MR重度较多,如能早期诊断、早期干预,可以减少MR的发生和减轻智低程度。
From May 1, 1990 to April 30, 1994, 162 cases (16%) of genetic factors related to the diagnosis of mental retardation (MR) in our hospital were analyzed. Results: 77.8% in rural areas, 22.2% in urban areas, 2.45: 1 in male and female ratio, 38.3% in mild cases, 61.7% in severe cases, and 21.4% in chromosome diseases. Syndrome X accounted for 24%, including 2 females, were severe MR. Congenital metabolic diseases are mainly cretinism and phenylketonuria, accounting for 22.2%. Genetic degenerative disease accounted for 25.3% of the cause, of which 27 cases of tuberous sclerosis accounted for 16.7%. Tip: genetic factors caused by MR more severe, if early diagnosis, early intervention, can reduce the occurrence of MR and reduce the level of intellectual loss.