病例:患者男性,14岁,先心病,因先天性室间隔缺损,到我院心胸外科施行修补手术治疗。染色体核型分析发现核型为46,XY/47,XY,+8(2:1),为嵌合型8号染色体三体综合征。该患者身高159cm,体重45kg,体型瘦长,四肢细长,双手指关节屈曲、不能伸展,双足足纹异常。表情呆板,双眼内斜视,鼻 Case: male patient, 14 years old, congenital heart disease, due to congenital ventricular septal defect, to our hospital cardiothoracic surgery repair operation. Chromosomal karyotype analysis found that karyotype 46, XY / 47, XY, +8 (2: 1), was chimeric type 8 trisomy. The patient height 159cm, weight 45kg, slender body, slender limbs, both hands knuckle flexion, can not stretch, two-legged foot pattern abnormalities. Dull expression, eyes esotropia, nose