Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3037650 | Brain and Development | 2011 | 4 Pages |
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.
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Authors
Kan Takahashi, Akira Oka, Masashi Mizuguchi, Makiko Saitoh, Junko Takita, Atsushi Sato, Masakazu Mimaki, Motohiro Kato, Seishi Ogawa, Takashi Igarashi,