2015
DOI: 10.1159/000435796
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Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

Abstract: Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes. We performed chorionic villi sampling for a paternal 8;15 reciprocal translocation in the sixth pregnancy of a Caucasian woman. Cytogenetic analysis of chorionic villi, after both short- and long-term cultures, revealed the presence of the same rearrangement fo… Show more

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