Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome

Am J Med Genet. 2002 May 1;109(3):234-7. doi: 10.1002/ajmg.10314.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Cardiomyopathies / pathology
  • Chromosome Breakage*
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Face / abnormalities
  • Growth Disorders / pathology*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / pathology
  • Skin Abnormalities / pathology
  • Syndrome
  • Translocation, Genetic*