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在患有家族性腺瘤息肉病并有智力低下的两兄弟,观察到5 q中间缺失。这个缺失位置与Herrera等在Gardner综合征病人所观察的结果相似。后来,Bodmer等将缺失范围定位在5 q15-q22。两兄弟的母亲智力低下,并死于伴有多发性息肉的结肠癌,她幸存的两个儿子存在许多畸形,是同母异父。结肠癌和家族性腺瘤息肉病是经尸检诊断的。对这两个有血缘关系的病人研究结果显示:哥哥被诊断为家族性腺瘤息肉病,并于1981年行结肠手术。其后,弟弟也被诊断为家族性腺瘤息肉病,并于1987年行结肠手
In two brothers with familial adenomatous polyposis and having mental retardation, a median deletion of 5 q was observed. This missing location is similar to what Herrera et al observed in Gardner’s syndrome. Later, Bodmer et al. Mapped the missing region at 5 q15-q22. The mothers of the two brothers, who are mentally retarded and die of colon cancer with multiple polyps, have many deformities in their surviving two sons, being mothers and fathers. Colon cancer and familial adenomatous polyposis were confirmed by autopsy. The findings of two blood-related patients showed that his brother was diagnosed with familial adenomatous polyposis and had colorectal surgery in 1981. Subsequently, his younger brother was also diagnosed with familial adenomatous polyposis and colonized in 1987