Barros-Nuñez P, Medina C, Mendoza R, Sanchez-Corona J, Garcia-Cruz D
División de Genética, Centro Médico de Occidente, Guadalajara, Jalisco, México.
Clin Genet. 1995 Sep;48(3):160-1. doi: 10.1111/j.1399-0004.1995.tb04078.x.
Typical isolated ocular coloboma is a congenital abnormality caused by a defective closure of the embryonic fissure of the optic cup. Although an irregular autosomal dominant mechanism of inheritance has been proposed, there is some evidence of other modes of transmission and etiologies. This report shows an unexpected recurrence of iris coloboma, occurring in three sibships of the same family, that could be explained by a "delayed mutation" or "premutation" mechanism.
典型的孤立性眼裂缺是一种由视杯胚胎裂闭合缺陷引起的先天性异常。尽管有人提出了不规则的常染色体显性遗传机制，但也有一些证据表明存在其他遗传方式和病因。本报告显示，同一家族的三个同胞中有虹膜裂缺意外复发，这可能由“延迟突变”或“前突变”机制来解释。
