Kemper M B, Hagerman R J, Ahmad R S, Mariner R
Am J Med Genet. 1986 Jan-Feb;23(1-2):139-56. doi: 10.1002/ajmg.1320230109.
We investigated the possibility that fra(X) heterozygotes had a distinct or specific set of mental deficits ("cognitive profile") which would allow for accurate diagnosis. Wechsler Intelligence Scale for Children-Revised (WISC-R) subtest scores obtained on 8 fra(X) school age girls were compared with similar scores obtained on 8 "learning-disabled" non fra(X) girls matched on the basis of Full Scale IQ (FSIQ). The Block Design subtest score was significantly lower in fra(X) girls. In a larger sample of 22 fra(X) females, a characteristic combination of low Arithmetic, Digit Span, and Block Design subtest scores was observed. The mean discrepancy between these 3 subtest scores from the total Verbal or Performance subtest means was significant for the fra(X) group but not for a comparison group of 20 learning-disabled females. Verbal IQ (VIQ) and Performance IQ (PIQ) discrepancy was not significant in fra(X) females. Percent fra(X) positive cells was negatively correlated with VIQ and FSIQ but not with PIQ.
我们研究了脆性X染色体（fra(X)）杂合子是否存在一组独特或特定的智力缺陷（“认知概况”），以便进行准确诊断。将8名学龄期脆性X染色体（fra(X)）女孩的韦氏儿童智力量表修订版（WISC-R）子测验分数，与8名基于全量表智商（FSIQ）匹配的“学习障碍”非脆性X染色体（fra(X)）女孩的类似分数进行比较。在脆性X染色体（fra(X)）女孩中，积木图案子测验分数显著较低。在一个由22名脆性X染色体（fra(X)）女性组成的更大样本中，观察到算术、数字广度和积木图案子测验分数的特征性组合较低。对于脆性X染色体（fra(X)）组，这3个子测验分数与总言语或操作子测验平均分之间的平均差异显著，但对于20名学习障碍女性的对照组则不显著。脆性X染色体（fra(X)）女性的言语智商（VIQ）和操作智商（PIQ）差异不显著。脆性X染色体（fra(X)）阳性细胞百分比与VIQ和FSIQ呈负相关，但与PIQ无关。
