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A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism

Author(s): Acosta A.X. | Peres L.C. | Mazzucatto L.F. | Pina-Neto J.M.

Journal: Genetics and Molecular Biology
ISSN 1415-4757

Volume: 21;
Issue: 3;
Date: 1998;
Original page

Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant.
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