Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations

Prenatal testing has been moving towards non-invasive methods to determine fetal risk for genetic disorders. Numerous studies have focused the attention on common trisomies; although the detection rate (DR) for trisomy 21 is high (over 95%), the accuracy regarding the DR for trisomies 13 and 18 has...

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Detalhes bibliográficos
Publicado no:J Med Life
Main Authors: Libotte, Francesco, Carpineto, Sonia Lorena, Dello Russo, Claudio, Viola, Antonella, Margiotti, Katia, Restaldi, Fabrizia, Novelli, Antonio, Mesoraca, Alvaro, Giorlandino, Claudio
Formato: Artigo
Idioma:Inglês
Publicado em: Carol Davila University Press 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803325/
https://ncbi.nlm.nih.gov/pubmed/33456614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25122/jml-2020-0092
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