病例患儿,男,2岁。头小脸圆,眼裂上斜,眼距宽,内斜視,眼球对外界刺激无反射,鼻梁低平,舌外伸,流涎。智力和运动发育障碍,不会翻身和坐立,四肢肌肉松弛,不会屈伸。经检查后,患儿及父母同时做染色体检查。该患儿共计数50个中期分裂相,46个细胞中出现罗式易位染色体。即第14号染色 Case of children, male, 2 years old. Head small face round, split eyes oblique, wide eyes, esotropia, eye irritation to the outside world without reflection, nose flat, tongue extension, salivation. Mental and motor developmental disorders, will not stand up and sit, limbs, muscle relaxation, will not flexion and extension. After examination, children and their parents at the same time do the chromosome examination. The children counted a total of 50 metaphase, 46 of which appeared in the Luo type translocation chromosome. No. 14 staining