| A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. | |
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MedLine Citation:
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PMID: 20648245 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued overgrowth and disturbed glucose homeostasis, a marked developmental delay, and severe behavioural problems especially caused by anxieties. Array comparative genomic hybridization analysis showed a de novo 12q24.31 interstitial deletion, which was confirmed by fluorescence in situ hybridization. The deleted region contains amongst others: HNF1 homeobox A (HNF1A) which is important for the regulation of gene expression in the liver and involved in maturity-onset diabetes of the young type 3 and insulin resistance; acyl-CoA dehydrogenase short chain (ACADS) which encodes an enzyme important in mitochondrial fatty acid beta-oxidation and can cause short-chain acyl-CoA dehydrogenese (SCAD) deficiency, and purinergic receptor P2X7 (P2RX7) which encodes a ligand-gated ion channel, and of which polymorphisms are found with increased frequency in patients with psychiatric disorders, especially anxieties. We conclude the present patient has a hitherto undescribed contiguous gene syndrome, which can initially resemble Beckwith-Wiedemann syndrome. |
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Authors:
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E Baple; R Palmer; R C M Hennekam |
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Publication Detail:
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Type: Journal Article Date: 2010-01-11 |
Journal Detail:
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Title: Molecular syndromology Volume: 1 ISSN: 1661-8777 ISO Abbreviation: Mol Syndromol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-07-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525192 Medline TA: Mol Syndromol Country: Switzerland |
Other Details:
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Languages: eng Pagination: 42-5 Citation Subset: - |
Affiliation:
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Department of Clinical Genetics, Great Ormond Street Hospital for Children, UCL, London, UK. |
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