A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases |
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| Authors: | Lillian Y. F. Hsu MD Sara Kaffe Theresa E. Perlis |
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| Affiliation: | 1. Prenatal Diagnosis Laboratory of New York City, Medical and Health Research Association of New York City Mount Sinai School of Medicine, Department of Pediatrics, New York, U.S.A.;2. Prenatal Diagnosis Laboratory of New York City, Medical and Health Research Association of New York City |
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| Abstract: | 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. |
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| Keywords: | Trisomy 20 Chromosome mosaicism Prenatal diagnosis |
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