Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant

J Med Genet. 2002 Nov;39(11):e72. doi: 10.1136/jmg.39.11.e72.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Chromosome Aberrations*
  • Chromosome Inversion*
  • Craniofacial Abnormalities
  • Female
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Microcephaly / pathology
  • Mosaicism / genetics*
  • Psychomotor Disorders / pathology