Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities
Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities
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DOI：
10.1002/ajmg.1490
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发表时间：
2001-09-01
期刊：
影响因子：
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通讯作者：
Harmon, RJ
中科院分区：
文献类型：
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作者：
Bender, BG;Linden, MG;Harmon, RJ
本报告提供的数据定义了一组成年人的神经心理学和认知表型的性染色体异常，在出生时通过染色体筛查的40,000个连续的新生儿在1964年和1974年之间。在所有三个非马赛克组中，阅读技能受损，智力障碍者平均比对照组减少20分以上。47，XXX名女性表现出最大的整体障碍，包括概念化和解决问题测试的得分下降。45，X名女性表现出空间思维能力受损，47，XXY名男性表现出语言处理能力受损。在雌性马赛克组中未发现评分降低。在所有的群体中，分数都有明显的变化;一些候选人无法从事任何工作，而另一些人则完成了大学学业并获得了专业工作。(C)2001 Wiley-Liss，Inc.
This report presents data defining the neuropsychological and cognitive phenotypes of a group of adults with sex chromosome abnormalities identified at birth through the chromosome screening of 40,000 consecutive newborns between 1964 and 1974. In all three nonmosaic groups, reading skills were impaired and intelligence quotients were on average reduced more than 20 points relative to controls. The 47,XXX women demonstrated greatest overall impairment, including reduced scores on tests of conceptualization and problem solving. 45,X women demonstrated impairment in spatial thinking skills, and 47,XXY men in verbal processing skills. No reduced scores were found in the female mosaic group. Marked variability in scores was seen in all groups; some propositi have been unable to hold any job, whereas others have completed college and are professionally employed. (C) 2001 Wiley-Liss, Inc.