An apparent de novo terminal deletion of chromosome 2 (pter----p24:)

J Med Genet. 1990 Feb;27(2):137-8. doi: 10.1136/jmg.27.2.137.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Facial Bones / abnormalities
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics
  • Micrognathism / genetics
  • Skull / abnormalities
  • Syndrome