Document Detail

Clinical Report: An interstitial deletion of 16p13.11 detected by arrayCGH in a patient with infantile spasms.
MedLine Citation:
PMID:  21315189     Owner:  NLM     Status:  Publisher    
Chromosome 16p13.11 has recently been reported as a region of recurrent microdeletion/duplication, which may contribute to a specific clinical phenotype of epilepsy, significant learning difficulties and distinct facial dysmorphism. The 16p13.11 microdeletion syndrome is associated with schizophrenia, developmental delay and idiopathic generalised epilepsy. Haploinsufficiency of genes in 16p13.11 has been suggested as contributing to the pathogenicity of this microdeletion syndrome. We report a three-year-old boy with the 16p13.11 microdeletion syndrome, identified on arrayCGH, and describe his clinical phenotype, thereby adding to the existing literature on this newly-described microdeletion syndrome. We discuss the function and potential relevance of the genes in this region with regards to the features described in this condition.
M Balasubramanian; K Smith; S R Mordekar; M J Parker
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-8
Journal Detail:
Title:  European journal of medical genetics     Volume:  -     ISSN:  1878-0849     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011. Published by Elsevier Masson SAS.
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.
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