Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR ‐DSCR) on human chromosome 21

ConclusionsThe findings presented here further support the association of the HR ‐DSCR with the diagnosis of DS, representing an unbiased validation of the original model. Further studies are needed to identify and characterize genetic determinants presumably located in the HR‐DSCR and functionally associated to the critical manifestations of DS.

Source: Molecular Genetics & Genomic Medicine - June 24, 2019 Category: Genetics & Stem Cells Authors: Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebj ærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido C Tags: ORIGINAL ARTICLE Source Type: research