| Occurrence of anaplastic oligodendroglioma in a patient with Williams syndrome: a case report with analysis of mutational profile of tumor. | |
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MedLine Citation:
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PMID: 19764675 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive facial dysmorphisms, mental retardation, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits. A majority of patients with Williams syndrome exhibit a hemizygous micro-deletion of chromosome 7q11.23, which is the locus of some 20-30 genes including the ELN gene that encodes the structural protein elastin. Chromosome 7q contains putative tumor suppressor genes and is one of the chromosomes that are frequently involved in chromosomal aberrations in human malignancies. A paucity of tumors (three) has been reported in the literature to occur in patients with Williams syndrome. We report a case of anaplastic oligodendroglioma that occurred in a 31-year-old man with Williams syndrome. Mutational profiling by loss of heterozygosity analysis using a panel of polymorphic micro-satellite markers indicated combined deletion of chromosome 1p and 19q. We draw attention to this apparently rare or possibly under-reported occurrence of tumors in patients with Williams syndrome and suggest that Central Nervous System [CNS] tumors be considered as differential diagnoses in such patients when they present with unanticipated neurologic symptoms that are not attributable to those commonly associated with Williams syndrome. |
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Authors:
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B I Omalu; U H Nnebe-Agumadu |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Nigerian journal of clinical practice Volume: 12 ISSN: 1119-3077 ISO Abbreviation: Niger J Clin Pract Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-09-21 Completed Date: 2009-10-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101150032 Medline TA: Niger J Clin Pract Country: Nigeria |
Other Details:
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Languages: eng Pagination: 200-4 Citation Subset: IM |
Affiliation:
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University of Pittsburgh, Pittsburgh, Pennslyvania, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain Neoplasms / epidemiology* Comorbidity DNA Mutational Analysis Humans Loss of Heterozygosity Male Neurologic Examination Oligodendroglioma / epidemiology*, genetics Parietal Lobe* Williams Syndrome / epidemiology* |
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