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Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi

โœ Scribed by Grati, Francesca R; Grimi, Beatrice; Frascoli, Giuditia; Di Meco, Anna Maria; Liuti, Rosaria; Milani, Silvia; Trotta, Anna; Dulcetti, Francesca; Grosso, Enrico; Miozzo, Monica


Book ID
110026567
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
105 KB
Volume
14
Category
Article
ISSN
1018-4813

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In 3,000 chorionic villi studies (CVS) 33 cases of mosaicism and 7 false-positive cell lines in all cells were seen. The mosaic cell lines were caused by aneuploidy of autosomes (13x), sex chromosomes (9x), and structural anomalies (11x1. Mosaics of fetal origin were only 4 cases of trisomy 21 and o

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We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features co

Rapid positive confirmation of mosaicism