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Trisomy 20 mosaicism in a foetus
Authors:A McDermott  A Gardner  B Ray
Institution:South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol, U.K.
Abstract:A widespread distrust in the significance of the observation of trisomy 20 mosaicism in amniotic fluid cultures has led to an increasing belief that this particular type of aneuploidy is of extra foetal origin and is clinically incosequential. The report presents an example of amnoitic fluid cell mosaicism for trisomy 20 which was ultimately confirmed in the foetus, and proposes that, in spite of the absence of obvious congenital malformation from the foetus, trisomy 20 mosaicism in amnoitic fluid cultures should be regarded with the same deference as mosaicism for any other autosome of unknown effect.
Keywords:Trisomy 20  True foetal mosaicism  Prenatal diagnosis
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