title: Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
abstract: A patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q.
authors: Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, Japan.
authors: Kan
authors: K
authors: Takahashi
authors: Akira
authors: A
authors: Oka
authors: Masashi
authors: M
authors: Mizuguchi
authors: Makiko
authors: M
authors: Saitoh
authors: Junko
authors: J
authors: Takita
authors: Atsushi
authors: A
authors: Sato
authors: Masakazu
authors: M
authors: Mimaki
authors: Motohiro
authors: M
authors: Kato
authors: Seishi
authors: S
authors: Ogawa
authors: Takashi
authors: T
authors: Igarashi
mesh_terms: D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics / Q000473:pathology; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000235:genetics / Q000473:pathology; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology