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Updated: Aug 4, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases
M J Pettenati1, M Wheeler, D J Bartlett
1Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27103.
Abstract:
45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.
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