Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N
Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Hum Genet. 1993 Apr;91(3):205-9. doi: 10.1007/BF00218257.
We report the first familial case of dominantly inherited aniridia with a cryptic inversion within band 11p13. High-resolution chromosome analysis gave a suspicion of a tiny constitutional aberration around band 11p13 and fluorescence in situ hybridization using 11p cosmids successfully confirmed that the aniridia patients of this family have an inversion within band 11p13. The distal breakpoint of the inversion is telomeric to a candidate aniridia gene (AN2) and suggests that more genes might be involved in the etiology of aniridia. In situ hybridization is a powerful tool to detect cryptic rearrangements in sporadic or familial patients with aniridia. This family indicated the importance of careful observation of the 11p13 region of aniridia patients, even if the aniridia was autosomal dominantly inherited.
我们报告了首例显性遗传无虹膜且11p13带内存在隐匿性倒位的家族性病例。高分辨率染色体分析怀疑11p13带附近存在微小的染色体结构畸变，使用11p黏粒进行荧光原位杂交成功证实该家族的无虹膜患者在11p13带内存在倒位。倒位的远端断点位于一个候选无虹膜基因（AN2）的端粒侧，提示可能有更多基因参与无虹膜的病因。原位杂交是检测散发或家族性无虹膜患者隐匿性重排的有力工具。该家族表明，即使无虹膜是常染色体显性遗传，仔细观察无虹膜患者的11p13区域也很重要。
