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Prenatal diagnosis of trisomy 20 mosaicism indicating an extra embryonic origin
Authors:Shari Baldinger  Cindy Millard  David Schmeling  Richard P Bendel
Institution:The Perinatal Center and Cytogeneties Laboratory. Abbott-Northwestern Hospital, 800 E. 28th Street at Chicago Avenue, Minneapolis, MN 55407, USA
Abstract:An additional case of amniotic fluid trisomy 20 mosaicism is presented. After careful counselling, the pregnancy continued and a phenotypically normal female was delivered. This case of amniocyte mosaicism establishes the source of aneuploid cell line as amnion. Since an extra-embryonic origin of the mosaicism has been confirmed, this should be carefully considered as a real possibility in counselling such families.
Keywords:Amnion  ‘True’ mosaicism  Heterogeneity  Genetic counselling
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