" /> Premature chromatid separation trait - CISMeF





Preferred Label : Premature chromatid separation trait;

Symbol : PCS;

CISMeF acronym : PCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Total premature chromatid separation trait;

Description : Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found 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 known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004). See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BUB1 mitotic checkpoint serine/threonine kinase B gene (BUB1B, 602860.0003);

Laboratory abnormalities : Premature chromatid separation (PCS) observed in 5% to 50% cultured lymphocytes during metaphase; PCS involves most of all chromosomes of a metaphase; PCS shows separate and splayed chromatids with discernible centromeres; Shortened metaphase;

Prefixed ID : #176430;

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22/05/2025


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