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9号染色体部分单体在1973年首次被描述。继后临床和细胞遗传学研究定为del(9)综合征,具有一组主要的临床特征。迄今已报道30多例。9号染色体短臂部分缺失的大多数患者均有相似的临床体征:三角头,隆凸的额缝,蒙古样眼裂,内毗赘皮,深大的眼睛,扁平鼻梁,鼻孔前倾,鼻唇沟长,耳廓畸形,高腭弓,小颌,乳距宽,蜘蛛样指(主要是中指骨延长),方指甲,以及明显的生理和智力发育障碍。
Part 9 chromosome was first described in 1973. Subsequent clinical and cytogenetic studies were defined as del (9) syndrome with a major set of clinical features. So far, more than 30 cases have been reported. Most patients with partial shortening of chromosome 9 have similar clinical signs: the triangular head, the bumps on the protuberance, the Mongolian-like ocular cleft, the inner epidermis, the deep eye, the flat nose bridge, the nostril forward, the nasal cavity forward Lip groove length, auricle deformity, high palatal arch, small jaw, wide terestria, spider-like fingers (mainly middle phalangeal extension), square nails, and significant physical and mental retardation.