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

• Main Authors: Maria Chiara Pelleri (Author), Chiara Locatelli (Author), Teresa Mattina (Author), Maria Clara Bonaglia (Author), Francesca Piazza (Author), Pamela Magini (Author), Francesca Antonaros (Author), Giuseppe Ramacieri (Author), Beatrice Vione (Author), Lorenza Vitale (Author), Marco Seri (Author), Pierluigi Strippoli (Author), Guido Cocchi (Author), Allison Piovesan (Author), Maria Caracausi (Author)
• פורמט: ספר
• יצא לאור: BMC, 2022-12-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract 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...