premature chromatid separation trait
Definition An autosomal dominant disorder (OMIM:176430) characterised by separate and splayed chromatids with discernible centromeres involving all or most chromosomes of a metaphase. Premature chromatid separation—PCS occurs in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is termed heterozygous PCS trait and has no obvious phenotypic effect; some individuals have reported decreased fertility.
Molecular pathology Defects of BUB1B, which encodes a kinase that is an essential component of the mitotic checkpoint–MC and required for normal mitosis progression, cause premature chromatid separation trait.
Synonym Total premature chromatid separation trait