Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report

J Med Genet. 2003 Mar;40(3):e28. doi: 10.1136/jmg.40.3.e28.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Aneuploidy*
  • Autoantigens
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Developmental Disabilities / pathology
  • Female
  • Heart Defects, Congenital / pathology
  • Hemangioma / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Microcephaly / pathology
  • Microsatellite Repeats / genetics*
  • Muscular Dystrophies / pathology
  • Polydactyly / pathology
  • Ribonucleoproteins, Small Nuclear / genetics*
  • snRNP Core Proteins

Substances

  • Autoantigens
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • snRNP Core Proteins