患儿,女,4岁,足月顺产。现体重8.5kg,身高73cm,头围48cm;不会说话,不能站立,头发稀少,囟门闭合差,眼距宽,内眦距离4cm;流涎,通贯掌,双手小指曲屈,发育迟缓,智力低下,易哭闹,有粗暴动作。细胞遗传学检查外周血淋巴细胞培养,染色体G显带,分析中期分裂相50个,核型为46,XX,-16,+der(16),(7pter→7p21∶∶16p13→16qter)。 Children, female, 4 years old, full-term delivery. Body weight is 8.5kg, height 73cm, head circumference 48cm; can not speak, can not stand, hair is thin, the fontanelle closed poor, wide eyes, inner ear distance 4cm; salivation, through the palm, hands pinky flexor, stunting, Low, easy to cry, there is rude action. Cytogenetics examination of peripheral blood lymphocyte culture, chromosome G band, analysis of metaphase 50, Karyotype 46, XX, -16, + der (16), (7pter → 7p21::16p13 → 16qter).