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Mosaicism in Trisomy 18

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1 papers 0 to 25 followers Research and Case Studies involving diagnosis of Mosaic Trisomy 18
By Victoria Miller Trisomy 18 Foundation
Neidin Bussmann, Katie Cunningham, Andrew Green, C Anthony Ryan
Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18...
November 11, 2015: BMJ Case Reports
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