Duplication 2 (q11.2-q21): a previously unreported abnormality

J Med Genet. 1995 Oct;32(10):825-6. doi: 10.1136/jmg.32.10.825.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 2*
  • Face / abnormalities
  • Female
  • Growth Disorders
  • Humans
  • Hyperkinesis
  • Hyperphagia
  • Learning Disabilities / genetics
  • Male