Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes

Am J Med Genet. 1994 Feb 15;49(4):410-3. doi: 10.1002/ajmg.1320490412.

Abstract

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cells, Cultured
  • Child, Preschool
  • Chromosome Fragility
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 1*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Twins, Monozygotic / genetics