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Duplication 2 (q11.2-q21): a previously unreported abnormality
  1. L B Cooke1,
  2. H Richards1,
  3. P W Lunt2,
  4. L Burvill-Holmes3,
  5. R T Howell3,
  6. A McDermott3
  1. 1Stoke Park Hospital, Stoke Lane, Stapleton, Bristol BS16 1QU, UK
  2. Clinical Genetics Service, Institute of Child Health, Bristol Royal Hospital for Sick Children, St Michael's Hill, Bristol BS1 8BJ, UK
  3. South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol BS10 5NB, UK

    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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