论文部分内容阅读
先证者女,足月顺产,因智力低下、语言障碍、流涎就诊。患儿生长发育与同龄儿相差不显。鼻梁低,眼距宽,鼻孔向上,眼睑水肿,眼裂小,前额突出,上腭高拱,双耳廓多发切迹畸形,颈短,屈指,左手通贯掌,肌张力差。外周血淋巴细胞染色体检查核型为46,XX,6q+。经询问家族史患儿外祖母、舅母均有流产史,见图1。对其家系成员作了外周血淋巴细胞染色体检查,其父核型正常。其母为46,XX,t(2;6)
Female probands, full-term follow-up, due to mental retardation, language barriers, salivation treatment. Children’s growth and development of children with no significant difference between the same age. Low nose, wide ocular nostrils, eyelid edema, small eyelid, prominent forehead, high arch on the palate, multiple aural incision deformities, short neck, flexor, left hand through the palm, poor muscle tension. Chromosome examination of peripheral blood lymphocytes Karyotype 46, XX, 6q +. By asking the family history of children outside grandmothers, aunt have abortion history, see Figure 1. Members of their families made a peripheral blood lymphocyte chromosome examination, the normal parent karyotype. The mother is 46, XX, t (2; 6)