LD50.3
Klinefelter综合征
Klinefelter syndrome
- 上级条目
- LD50 X染色体数量异常
- 层级
- 5 级
定义
Klinefelter综合征定义了一组染色体疾病,与正常的46,XY男性核型相比,至少有一条额外的X染色体。对身体特征以及身体和认知发展的影响随着额外X的数量增加而增加,每增加一个额外X都会导致智商(IQ)下降约15-16分,语言受影响最大,尤其是语言表达能力。
Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.
子条目 共 4 条
后组配轴 Postcoordination
该条目未定义后组配轴,直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式,不是必填项。