Mosaicism with a normal cell line and an unbalanced structural rearrangement

Am J Med Genet. 1999 Jan 1;82(1):15-9.

Abstract

Mosaicism with a normal cell line (N) and an unbalanced autosomal structural rearrangement (UASR) is rare. This report describes a case of a newborn female with a karyotype of 46,XX,der(4)t(4;15)(q35;q22)/46,XX. Molecular cytogenetic analysis confirmed the origin of the derivative chromosome 4. Here we discuss this case as well as other cases of mosaic karyotypes involving N/UASR.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 4*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Mosaicism*
  • Translocation, Genetic