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Review
. 1993 Mar;13(3):163-9.
doi: 10.1002/pd.1970130303.

Prenatal detection of monosomy 21 mosaicism

A Ghidini  1 , S Fallet, J Robinowitz, C J Lockwood, R Dische, J Willner
Affiliations
Review

Prenatal detection of monosomy 21 mosaicism

A Ghidini et al. Prenat Diagn. 1993 Mar.

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.

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