Heinemann M H, Breg R, Cotlier E
Br J Ophthalmol. 1979 Jan;63(1):40-4. doi: 10.1136/bjo.63.1.40.
Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.
在一名患有里格尔综合征的女孩及其父亲身上发现了6号染色体的臂间倒位(6p+q-)。父亲唯一的眼部体征是明显的虹膜隆凸和施瓦贝线。染色体异常与里格尔综合征的关联表明,对于该综合征的家族性或散发性患者以及前房角轻度异常的患者,需要进行染色体显带检测。