Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15)

J Med Genet. 1997 Jun;34(6):512-4. doi: 10.1136/jmg.34.6.512.

Abstract

We report on a 2 1/2 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cell Line
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Developmental Disabilities / genetics
  • Female
  • Fibroblasts / ultrastructure
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mosaicism*
  • Translocation, Genetic*
  • Trisomy*