Bender B G, Linden M G, Harmon R J
Department of Pediatrics, National Jewish Medical and Research Center, 1400 Jackson Street, Denver, CO 80206, USA.
Am J Med Genet. 2001 Sep 1;102(4):309-13. doi: 10.1002/ajmg.1490.
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.
本报告展示了一组成年人性染色体异常的神经心理学和认知表型数据，这些人是在1964年至1974年间对40000例连续新生儿进行染色体筛查时在出生时被确定的。在所有三个非嵌合组中，阅读技能受损，智商相对于对照组平均降低超过20分。47,XXX女性表现出最严重的整体损害，包括概念化和解决问题测试得分降低。45,X女性在空间思维技能方面有损害，47,XXY男性在语言处理技能方面有损害。在女性嵌合组中未发现得分降低。所有组的得分都有显著差异；一些受试者无法从事任何工作，而另一些人则完成了大学学业并从事专业工作。
