Title |
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
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Published in |
Clinical Epigenetics, June 2014
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DOI | 10.1186/1868-7083-6-11 |
Pubmed ID | |
Authors |
Abdulla Ibrahim, Gail Kirby, Carol Hardy, Renuka P Dias, Louise Tee, Derek Lim, Jonathan Berg, Fiona MacDonald, Peter Nightingale, Eamonn R Maher |
Abstract |
Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with molecular studies commonly performed to confirm diagnosis. In particular, methylation status analysis at two 11p15.5 imprinting control centres (IC1 and IC2) detects up to 80% of BWS cases (though low-level mosaicism may not be detected). In order to evaluate the relationship between the clinical presentation of suspected BWS and IC1/2 methylation abnormalities we reviewed the results of >1,000 referrals for molecular diagnostic testing. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 17% |
United Kingdom | 1 | 17% |
Venezuela, Bolivarian Republic of | 1 | 17% |
United States | 1 | 17% |
Spain | 1 | 17% |
Unknown | 1 | 17% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 67% |
Scientists | 2 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 62 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 9 | 15% |
Student > Bachelor | 7 | 11% |
Other | 7 | 11% |
Student > Master | 7 | 11% |
Student > Ph. D. Student | 5 | 8% |
Other | 10 | 16% |
Unknown | 17 | 27% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 18 | 29% |
Medicine and Dentistry | 18 | 29% |
Agricultural and Biological Sciences | 4 | 6% |
Economics, Econometrics and Finance | 1 | 2% |
Computer Science | 1 | 2% |
Other | 2 | 3% |
Unknown | 18 | 29% |