A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH

Ann Genet. 2001 Jul-Sep;44(3):117-9. doi: 10.1016/s0003-3995(01)01086-3.

Abstract

In 1990 we reported the case of a 17 years old girl with growth retardation, overweight and primary amenorrhea, presenting a de novo chromosomal rearrangement cytogenetically characterized as a paracentric inversion of the short arm of X chromosome. The FISH analyses that were recently performed, revealed that in fact our patient presented a case of unbalanced translocation, 46,X, t(X;15)(p11.2; q15).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 15*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping
  • Syndrome
  • Translocation, Genetic*
  • Turner Syndrome / diagnosis
  • X Chromosome*