Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

BACKGROUND: Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model fo...

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Detalles Bibliográficos
Autores principales: Pelleri, Maria Chiara, Locatelli, Chiara, Mattina, Teresa, Bonaglia, Maria Clara, Piazza, Francesca, Magini, Pamela, Antonaros, Francesca, Ramacieri, Giuseppe, Vione, Beatrice, Vitale, Lorenza, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768891/
https://www.ncbi.nlm.nih.gov/pubmed/36544206
http://dx.doi.org/10.1186/s12920-022-01422-6

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