Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6

Clin Genet. 1980 Jul;18(1):83-7. doi: 10.1111/j.1399-0004.1980.tb01369.x.


A case of trisomy for a portion of the long arm of chromosome 6, secondary to recombination of a maternal pericentric inversion, is presented. The pericentric inversion was documented in three generations of a family with a number of spontaneous abortions and periinatal deaths.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosome Inversion*
  • Chromosomes, Human, 6-12 and X*
  • Humans
  • Infant
  • Pedigree
  • Recombination, Genetic
  • Trisomy