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Prenatal detection of monosomy 21 mosaicism |
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| Authors: | Alessandro Ghidini MD Shari Fallet Jane Robinowitz Charles J Lockwood Renate Dische Judith Willner |
| Institution: | Division of Medical and Molecular Genetics, Department of Pathology, and Department of Obstetrics, Gynecology and Reproductive Sciences, The Mount Sinai School of Medicine, New York, NY 10029, U.S.A. |
| Abstract: | We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected. |
| Keywords: | Monosomy 21 Mosaicism Amniocentesis |