Duplication 2 (q11.2-q21): a previously unreported abnormality |
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| Authors: | L B Cooke H Richards P W Lunt L Burvill-Holmes R T Howell A McDermott |
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| Affiliation: | 1Stoke Park Hospital, Stoke Lane, Stapleton, Bristol BS16 1QU, UK;Clinical Genetics Service, Institute of Child Health, Bristol Royal Hospital for Sick Children, St Michael''s Hill, Bristol BS1 8BJ, UK;South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol BS10 5NB, UK |
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| Abstract: | A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for this exact region. |
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