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49.11p部分单体(p13)综合征在多数患者中表现出AGR三联(无虹膜,男性的含糊的生殖器和智力障碍).p13片段的缺失对表型是有作用的.常是新发生的突变.常见特征:额突出;头部不对称;无虹膜和其它眼异常;眼睑下垂;宽眼距;鼻梁突出;上腭高尖;男性具含糊的生殖器;有发
The 49.11p partial haplotype (p13) syndrome shows an AGR triple (iris-free, vague genitalia and mental retardation) in most patients. The absence of the p13 segment has an effect on the phenotype, often new mutations . Common features: forehead prominent; asymmetric head; no iris and other eye abnormalities; drooping eyelid; wide ocular anteroposterior; prominent nose; upper palate cusp; male with vague genitalia;