| Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. | |
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MedLine Citation:
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PMID: 20728296 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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:
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Kan Takahashi; Akira Oka; Masashi Mizuguchi; Makiko Saitoh; Junko Takita; Atsushi Sato; Masakazu Mimaki; Motohiro Kato; Seishi Ogawa; Takashi Igarashi |
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Publication Detail:
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Type: Journal Article Date: 2010-08-21 |
Journal Detail:
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Title: Brain & development Volume: 33 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-08 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 353-6 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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