Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

J Med Genet. 2003 Apr;40(4):e47. doi: 10.1136/jmg.40.4.e47.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Anodontia / pathology
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Microcephaly / pathology*
  • Optic Atrophy / pathology
  • Phenotype
  • Psychomotor Disorders / pathology*