Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties

Abstract

A hucul mare with reproductive abnormalities was examined during karyotype analysis. The karyotype was analysed based on evaluation of 860 metaphase plates in chromosome preparations. The use of fluorescence in situ hybridization (FISH) with an X chromosome painting probe showed premature X chromosome separation in 9.5% cases of examined chromosome spreads. In this report, we present the first identify premature centromere division (PCD) as a possible cause of abnormal X chromosome morphology in horses and as a probable cause of reproductive difficulties.

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

“…The first application of FISH in equine clinical cytogenetics was the use of a flow sorted X chromosome paint to detect X chromosome aneuploidies [72]. Since then, X chromosome paints have been used in multiple cytogenetic cases for the detection of mosaic (see Figure 2B,C) and non-mosaic X chromosome aneuploidies [64,74,167,169], aneuploidies of X chromosome arms [171], sex chromosome mosaicism [175], and in one recent case, to show premature X chromosome centromere division in a Hucul mare [176]. Combination of both the X and the Y chromosome paints (Figure 2C) or the Y paint alone, have been used to confirm sex chromosome complement and large Y chromosome deletions in cases of XY male-to-female sex reversal [28,141].…”