Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over

Ann Hum Genet. 1978 Jan;41(3):315-22. doi: 10.1111/j.1469-1809.1978.tb01898.x.

Abstract

Two unrelated infants with partial trisomy 13 for the distal of the long arm are described. In one, a familial pericentric inversion is present in three generations and crossing-over in the inversion loop is considered as cause of partial trisomy 13. The other showed a tandem duplication of the distal half of the long arm of chromosome 13 beyond 13q14. This is interpreted to have arisen by unequal crossing-over in mispaired synapsis. It is suggested that recombination rather than breaks is a distinctive although rare cause of human chromosomal imbalance.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Inversion
  • Chromosomes, Human, 13-15*
  • Crossing Over, Genetic
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Recombination, Genetic
  • Trisomy*