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Premature chromatid separation trait

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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.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

18

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Genes

External Links

  • OMIM

    176430

  • Orphanet
  • HPO
  • Medgen

    C1864389

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