Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
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.
Takahashi
Kan
K
Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, Japan.
Oka
Akira
A
Mizuguchi
Masashi
M
Saitoh
Makiko
M
Takita
Junko
J
Sato
Atsushi
A
Mimaki
Masakazu
M
Kato
Motohiro
M
Ogawa
Seishi
S
Igarashi
Takashi
T
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