Fishler K, Koch R
University of Southern California School of Medicine.
Am J Ment Retard. 1991 Nov;96(3):345-51.
Serial assessments of mental status of 30 subjects with Down syndrome mosaicism were compared with those of 30 subjects with trisomy 21 Down syndrome. The samples were matched for age, sex, and parental socioeconomic background. The mean IQ level of the mosaic Down syndrome group was significantly higher than that of the trisomy 21 group. Many subjects with mosaicism showed better verbal abilities, and some also demonstrated normal visual-perceptual skills in paper- and-pencil tasks. Children with Down syndrome with IQs over 60 at 5 years of age and with relatively normal speech can be viewed as a suspected case of mosaicism. Chromosomal analysis is mandatory to confirm or disprove this diagnosis.
对30名嵌合型唐氏综合征患者的心理状态进行了系列评估，并与30名21-三体唐氏综合征患者的评估结果进行了比较。样本在年龄、性别和父母社会经济背景方面进行了匹配。嵌合型唐氏综合征组的平均智商水平显著高于21-三体组。许多嵌合型患者表现出更好的语言能力，一些患者在纸笔任务中也表现出正常的视觉感知技能。5岁时智商超过60且言语相对正常的唐氏综合征患儿可被视为嵌合型的疑似病例。必须进行染色体分析以证实或排除这一诊断。
