premature chromatid separation trait
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Epidemiology
- found in up to 2% of metaphases in cultured lymphocytes from ~ 40% of normal individuals
Genetics
- inheritance is autosomal dominant
- associated with defects in BUB1B
- separate & splayed chromatids with discernible centromeres
- involves all or most chromosomes of a metaphase
Clinical manifestations
- no obvious phenotypic effect (heterozygous form), although some have reported decreased fertility