Importance of determining variations in the number of copies in newborns with autosomal aneuploidies

Conclusions: Although the number of analyzed individuals was small, it is important to highlight that we found other variants in the number of copies that have been described in association with neurodevelopmental disorders, congenital anomalies, deafness, and short/tall stature, among others, in almost half of them, which will probably impact the phenotype negatively in patients with aneuploidies.PMID:34214269 | PMC:PMC8387016 | DOI:10.7705/biomedica.5354

Source: Biomedica : Revista del Instituto Nacional de Salud - July 2, 2021 Category: International Medicine & Public Health Authors: Hugo Abarca Milana Trubnykova F élix Chavesta Marco Ord óñez Evelina Rond ón Source Type: research