Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21
Prenatal Diagnosis2003Vol. 23(6), pp. 461–469
Citations Over TimeTop 13% of 2003 papers
Sophie Brisset, Azzedine Aboura, François Audibert, Jean‐Marc Costa, Aurore Coulomb L’Herminé, Valérie Gautier, René Frydman, Gérard Tachdjian
Abstract
Our cases underline the importance of combining the direct analysis and long-term culture of trophoblast and emphasise the need for confirmatory studies in other tissues when mosaicism of structural rearrangement is encountered in chorionic villi. The meiotic and mitotic mechanisms of formation of these structural rearrangements of chromosome 21 are discussed.
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