Mos 46,XX,r(18).ish r(18)(18ptel-,18qtel-)/46,XX.ish del(18)(18ptel-): an example for successive ring chromosome formation

Am J Med Genet A. 2005 Dec 15;139(3):234-5. doi: 10.1002/ajmg.a.31005.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology*
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Humans
  • IgA Deficiency / genetics
  • IgA Deficiency / pathology*
  • In Situ Hybridization, Fluorescence
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology*
  • Ring Chromosomes*