PubMed · 1987 · 55 citations · 0 references
Life SciencesGeneticsCytogeneticsEquine ScienceReproductive GeneticsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersNumerical Chromosome AbnormalitiesReproductive DisordersStructural Chromosome AbnormalitiesAutosomal TrisomyChromosomal Abnormalities EpidemiologyChromosomal Abnormality DetectionKaryotype VariationNumerical Chromosomal AbnormalitiesParental Chromosomal AbnormalitiesSex Chromosome Abnormalities
Chromosomal abnormality was detectable in 98 of 180 mares aged 3 years or over with gonadal dysgenesis. The most common abnormality was X monosomy (63,X). The second most common abnormality was a karyotype indistinguishable by G- or C-banding from that of a male horse (64,XY). Two mares demonstrated structural abnormality of one X chromosome [64,X,del(Xp)] which has not previously been reported in horses. One of these foaled a filly with the same karyotype as her dam. Blood typing confirmed parentage of the foal. This is the only example in our experience of fertility in a mare with gonadal dysgenesis and chromosomal abnormality. Chromosomal abnormalities were also found in 4 yearling fillies investigated solely because of small size, poor conformation and lack of vigour. One was 63,X; one was 63,X/64,XX; one was 64X,del(Xp) and the 4th had an autosomal trisomy, tentatively 64,XX,i(?26), which demonstrated a second new abnormal karyotype of the horse.