Mosaic tetrasomy 8p in two patients: clinical data and review of the literature

Am J Med Genet. 1994 May 1;50(4):377-80. doi: 10.1002/ajmg.1320500416.

Abstract

We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX,+i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Aneuploidy*
  • Chromosome Banding
  • Chromosome Inversion
  • Chromosomes, Human, Pair 8*
  • Developmental Disabilities / genetics*
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Mosaicism*
  • Muscle Hypotonia / genetics