Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16)

Clin Genet. 1990 Aug;38(2):121-5. doi: 10.1111/j.1399-0004.1990.tb03559.x.


Partial trisomy 4p was found in a child with dysmorphic features. Cytogenetic investigations in the parents revealed an intrachromosomal insertion in the mother, 46,XX,ins (4) (q313p14p16). The proband was trisomic for 4p(p14p16) as a result of a recombination event in the mother's chromosome 4 at meiosis. The clinical features of the proband are compared with those found in the literature.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosomes, Human, Pair 4*
  • DNA Transposable Elements / genetics*
  • Facial Bones / abnormalities
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Recombination, Genetic / genetics
  • Skull / abnormalities
  • Trisomy*


  • DNA Transposable Elements