You are here

Article Text

Article menu
Download PDFPDF
Brief Papers
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.

    https://doi.org/10.1136/jmg.32.10.825

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.