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Trisomy 20 mosaicism in a foetus
Author(s) -
McDermott A.,
Gardner A.,
Ray B.
Publication year - 1981
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970010210
Subject(s) - trisomy , aneuploidy , germline mosaicism , autosome , amniotic fluid , fetus , biology , down syndrome , amniocentesis , genetics , prenatal diagnosis , obstetrics , chromosome , pregnancy , medicine , mutation , gene
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.