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Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss
American Journal of Medical Genetics, 09/24/09
Dobkin C et al. – The data indicate that 45,X/46,XX mosaicism is much more common than expected in fragile X full mutation females. Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome.
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