MZ female twins discordant for X-linked diseases: a review

Acta Genet Med Gemellol (Roma). 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963.


The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.

Publication types

  • Review
  • Twin Study

MeSH terms

  • Color Vision Defects / genetics
  • Diseases in Twins / genetics*
  • Dosage Compensation, Genetic*
  • Fabry Disease / genetics
  • Female
  • Fragile X Syndrome / genetics
  • Genetic Diseases, Inborn / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Hemophilia B / genetics
  • Humans
  • Karyotyping
  • Models, Genetic
  • Mucopolysaccharidosis II / genetics
  • Muscular Dystrophies / genetics
  • Phenotype
  • Twins, Monozygotic*
  • X Chromosome*