Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry

J Med Genet. 2000 Oct;37(10):804-7. doi: 10.1136/jmg.37.10.804.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Breakage / genetics
  • Chromosome Deletion
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 7 / genetics
  • Female
  • Fibroblasts
  • Gene Duplication*
  • Genetic Heterogeneity*
  • Genotype
  • Humans
  • Hypopigmentation / genetics*
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Karyotyping
  • Lymphocytes
  • Male
  • Mosaicism / genetics*
  • Phenotype
  • Trisomy / genetics*