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A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases
Author(s) -
Hsu Lillian Y. F.,
Kaffe Sara,
Perlis Theresa E.
Publication year - 1991
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.1970110103
Subject(s) - trisomy , amniocentesis , prenatal diagnosis , aneuploidy , fetus , obstetrics , karyotype , biology , medicine , pregnancy , gynecology , pathology , genetics , chromosome , gene
One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow‐up studies in liveborns should include a culture from urine sediment.