女,3岁5个月,第一胎7个月早产。不会说话,只能短时行走,步态不稳,易感冒,常腹泻。检查:身高82cm,体重8.5kg;眼距宽,眼球突出,畏光,左眼小并常流泪;鼻梁低,反应较差,面容痴呆,常张口弄舌;心前区可闻Ⅲ级收缩期杂音;左手atd角56°;肌肉关节松弛;血象正常。外周血细胞培养分析60个良好分裂相2n=46;G显带分析40 Female, 3 years old 5 months, 7 months of first child premature birth. Can not speak, only short-term walking, unsteady gait, easy to catch cold, often diarrhea. Check: height 82cm, weight 8.5kg; wide eye, prominent prominence, photophobia, left eye and often small tears; low nose, poor response, dementia, often mouth tongue; precordial area can be heard Ⅲ systolic Noise; left atd angle 56 °; muscle and joint relaxation; blood normal. Peripheral blood cell culture analysis 60 well-separated 2n = 46; G-banding analysis40