title: Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.
abstract: 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.
authors: Division of Medical Genetics, Saitama Children's Medical Center, Japan.
authors: Y
authors: Y
authors: Fukushima
authors: J
authors: J
authors: Hoovers
authors: M
authors: M
authors: Mannens
authors: K
authors: K
authors: Wakui
authors: H
authors: H
authors: Ohashi
authors: T
authors: T
authors: Ohno
authors: Y
authors: Y
authors: Ueoka
authors: N
authors: N
authors: Niikawa
mesh_terms: D000328:Adult; D000368:Aged; D015783:Aniridia / Q000235:genetics*; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree