[Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH]

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Dec;30(6):657-9.
[Article in Chinese]

Abstract

Objective: To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X + mar[45]/46,XY[29].

Methods: The SRYgene was detected by PCR, and the chromosome Y probe that labeled with biotin was detected by fluorescence in situ hybridization.

Results: SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool.

Conclusion: The extra small chromosome is part of the chromosome Y.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Aberrations*
  • Female
  • Genes, sry / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping*
  • Polymerase Chain Reaction
  • Sex Chromosomes
  • Sex Differentiation / genetics
  • Turner Syndrome / genetics*