title: A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype.
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.
authors.affiliation: Department of Immuno- and Cytogenetics, National Research Institute of Animal Production, Balice/Kraków Equine Hospital in Gliwice, Gliwice, Poland. mbugno@izoo.krakow.pl
authors.forename: M
authors.initials: M
authors.lastname: Bugno
authors.forename: T
authors.initials: T
authors.lastname: Zabek
authors.forename: P
authors.initials: P
authors.lastname: Golonka
authors.forename: A
authors.initials: A
authors.lastname: Pieńkowska-Schelling
authors.forename: C
authors.initials: C
authors.lastname: Schelling
authors.forename: E
authors.initials: E
authors.lastname: Słota
mesh_terms: D000818:Animals; D001483:Base Sequence; D020223:Chromosome Painting / Q000662:veterinary; D017931:DNA Primers / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics / Q000662:veterinary*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D024282:Genes, sry; D006609:High Mobility Group Proteins / Q000235:genetics; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence / Q000662:veterinary; D007621:Karyotyping / Q000662:veterinary; D008297:Male; D009030:Mosaicism / Q000662:veterinary; D016133:Polymerase Chain Reaction / Q000662:veterinary; D055758:SOX9 Transcription Factor; D012729:Sex Chromosome Aberrations / Q000662:veterinary*; D012733:Sex Differentiation / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
chemical_list: D017931:DNA Primers; D051858:Forkhead Transcription Factors; D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; D014157:Transcription Factors