Case Reports
doi: 10.1016/j.ejpn.2012.12.004.
Epub 2013 Jan 24.
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
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- PMID: 23352671
- DOI: 10.1016/j.ejpn.2012.12.004
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Case Reports
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
Eur J Paediatr Neurol.
2013 May.
Abstract
A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype-phenotype correlation and accurate definition of the breakpoints in the deleted/duplicated regions.
Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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