A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype

Cytogenet Genome Res. 2008;120(1-2):123-6. doi: 10.1159/000118750. Epub 2008 Apr 30.

Abstract

Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromosome fragment detected in the investigated animal was the result of a deletion of a euchromatic fragment comprising the above-mentioned markers.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Painting / veterinary
  • DNA Primers / genetics
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / veterinary*
  • Female
  • Forkhead Transcription Factors / genetics
  • Genes, sry
  • High Mobility Group Proteins / genetics
  • Horse Diseases / genetics*
  • Horses / genetics*
  • In Situ Hybridization, Fluorescence / veterinary
  • Karyotyping / veterinary
  • Male
  • Mosaicism / veterinary
  • Polymerase Chain Reaction / veterinary
  • SOX9 Transcription Factor
  • Sex Chromosome Aberrations / veterinary*
  • Sex Differentiation / genetics
  • Transcription Factors / genetics
  • X Chromosome / genetics
  • Y Chromosome / genetics

Substances

  • DNA Primers
  • Forkhead Transcription Factors
  • High Mobility Group Proteins
  • SOX9 Transcription Factor
  • Transcription Factors