| Constitutional trisomy 8 and Behçet syndrome. | |
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MedLine Citation:
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PMID: 19353586 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable-number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required. |
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Authors:
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Kristin Becker; Oliver Fitzgerald; Andrew J Green; Mary Keogan; Ruth Newbury-Ecob; Lynn Greenhalgh; Stephen Withers; Edward J Hollox; Patricia M R Aldred; John A L Armour |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-05-04 Completed Date: 2009-06-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 982-6 Citation Subset: IM |
Affiliation:
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North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK. kristin.becker@cd-tr.wales.nhs.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Behcet Syndrome / genetics* Chromosomes, Human, Pair 8 / genetics* Female Gene Dosage Humans Male Trisomy / genetics* Young Adult alpha-Defensins / genetics |
| Chemical | |
Reg. No./Substance:
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0/alpha-Defensins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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