Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature

Am J Med Genet. 1993 Sep 1;47(3):357-9. doi: 10.1002/ajmg.1320470312.

Abstract

We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. The mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Amenorrhea / genetics*
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Banding
  • Chromosome Disorders
  • Dosage Compensation, Genetic
  • Female
  • Humans
  • Mosaicism*
  • Nondisjunction, Genetic
  • Ovary / abnormalities*
  • X Chromosome / ultrastructure*