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目的统计和分析在本院就诊的智力低下患儿的细胞遗传学结果分布情况。方法收集2009-2012年经本院诊断,临床表现为智力低下的患儿外周血1188例进行染色体G显带核型分析。结果 1188例智力低下患者中染色体异常者有487例(40.99%)。在染色体异常患儿中,唐氏综合征患者占绝大多数,有434例(89.48%),其次为猫叫综合征和吐纳氏综合征。染色体数目异常有425例,染色体结构重排有62例。结论对于临床上应注意对智力低儿童的进行染色体检查,必要时进行家系调查,以利于遗传疾病的早期干预和管理。
Objective To analyze and analyze the cytogenetic distribution of children with mental retardation in our hospital. Methods Chromosomal G-banding karyotype analysis of 1188 peripheral blood samples from children with mental retardation diagnosed in our hospital from 2009 to 2012 was collected. Results There were 487 (40.99%) cases of chromosomal aberrations in 1188 cases of mental retardation. In children with chromosomal abnormalities, Down Syndrome patients accounted for the vast majority, 434 cases (89.48%), followed by the cat called syndrome and Tenna syndrome. There were 425 cases of chromosomal abnormalities and 62 cases of chromosomal rearrangements. Conclusions For clinicians, we should pay attention to the chromosomal examination of children with mental retardation and carry out pedigree investigation if necessary in order to facilitate the early intervention and management of genetic diseases.