| A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. | |
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MedLine Citation:
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PMID: 20382277 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome. |
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Authors:
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Tuva Barøy; Doriana Misceo; Oivind Braaten; Johan R Helle; Madeleine Fannemel; Petter Strømme; Eirik Frengen |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-04-09 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 Jul-Aug |
Date Detail:
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Created Date: 2010-07-12 Completed Date: 2010-10-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 221-4 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Angelman Syndrome / genetics*, pathology Child Chromosome Deletion* Chromosomes, Human, Pair 15 / genetics* Comparative Genomic Hybridization Female Humans In Situ Hybridization, Fluorescence Male Oligonucleotide Array Sequence Analysis Phenotype |
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