患者男性,14岁,智力发育迟钝,学习困难,语言发育差,性格孤僻冷漠。足月顺产,无窒息史。体检:身体发育中等,神经系统无明显异常;语言模糊,口吃,词不达意。计算困难。面容粗犷,下唇较厚,耳正常。采用Cantu睾丸测量法测得两侧睾丸体积分别为14.73cm~3和18.47cm~3,平均为16.6cm~3,阴茎长约10cm。未发现明显的21-三体综合征的体征。 Male patients, 14 years old, mental retardation, learning difficulties, poor language development, eccentric personality indifference. Full-term birth, no history of asphyxia. Physical examination: medium physical development, nervous system no obvious abnormalities; language ambiguity, stuttering, the word is not satisfactory. Calculating difficulties. Rough face, lower lip thick, normal ears. Cantu testis measured by testicular volume on both sides were 14.73cm ~ 3 and 18.47cm ~ 3, with an average of 16.6cm ~ 3, penis length of about 10cm. No significant signs of trisomy 21 were found.