Document Detail


Hepatoblastoma in a patient with sotos syndrome.
MedLine Citation:
PMID:  19914434     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a case of hepatoblastoma that developed in a child with Sotos syndrome, an overgrowth syndrome with an increased risk of neoplasms. Genome-wide analysis of copy number alterations showed a gain of chromosome 2, uniparental disomy of 18q, and microdeletion of 5q35.
Authors:
Motohiro Kato; Junko Takita; Kan Takahashi; Masakazu Mimaki; Yuyan Chen; Katsuyoshi Koh; Kohmei Ida; Akira Oka; Masashi Mizuguchi; Seishi Ogawa; Takashi Igarashi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  155     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-16     Completed Date:  2010-01-07     Revised Date:  2010-05-26    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  937-9     Citation Subset:  AIM; IM    
Affiliation:
Department of Pediatrics, Graduate school of Medicine, University of Tokyo, Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Aneuploidy
Chromosome Deletion
Growth Disorders / complications,  genetics,  pathology*
Hepatoblastoma / diagnosis,  genetics*,  therapy
Humans
Infant
Intracellular Signaling Peptides and Proteins / genetics*
Liver Neoplasms / diagnosis,  genetics*,  therapy
Male
Nuclear Proteins / genetics*
Polymorphism, Single Nucleotide / genetics
Syndrome
Chemical
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/NSD1 protein, human; 0/Nuclear Proteins
Comments/Corrections
Comment In:
J Pediatr. 2010 Jun;156(6):1035-6; author reply 1036   [PMID:  20394943 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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