Article
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.
BMC medical genomics - 21 Dec 2022
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
Abstract excerpt
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 for addressing genotype-phenotype correlation in DS. Previous works reported systematic reanalyses of 132 subjects...
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