Prenatal detection of monosomy 21 mosaicism.

Prenat Diagn

Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029.

Published: March 1993

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.

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http://dx.doi.org/10.1002/pd.1970130303DOI Listing

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