Different clinical features in monozygotic twins: a case of 7q--syndrome

Clin Genet. 1993 Mar;43(3):139-42. doi: 10.1111/j.1399-0004.1993.tb04438.x.

Abstract

We present male monozygotic twins who showed quite different clinical features. Blood chromosome analysis revealed 46,XY/46,XY,del(7) (q32-->qter) mosaicism in both twins. However, cultured skin fibroblasts from the twins showed different karyotypes. Twin 1, with a normal phenotype, had normal chromosomes and was 46,XY. Twin 2, on the other hand, had the characteristic manifestations of 7q- syndrome and chromosomes of 46,XY,del(7) (q32-->qter). DNA fingerprint analysis of their peripheral blood samples revealed the same pattern. However, DNA fingerprint patterns of cultured skin fibroblasts and buccal mucosal cells were different when a 7q terminal marker, probe g3, was used. These identical twins with discordant phenotypes can be explained by the occurrence of twinning and simultaneous erroneous mitosis. In addition, there might be a vascular communication which probably resulted in blood exchange and chromosomal mosaicism of the lymphocytes of the monozygotic twins.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • DNA Fingerprinting
  • Developmental Disabilities / genetics*
  • Facial Bones / abnormalities
  • Humans
  • Male
  • Mosaicism / genetics
  • Phenotype
  • Skull / abnormalities
  • Syndrome
  • Twins, Monozygotic / genetics*