A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications.
Viviane Lamim LovatelAna Paula BuenoElaiza Almeida Antônio de KósLaura Guimarães Corrêa MeyerGerson Moura FerreiraMayara de Fátima KalonjiFabiana Vieira de MelloCristiane Bedran MilitoElaine Sobral da CostaEliana AbdelhayMaria Dolores Tabernero RedondoMaria S Pombo-de-OliveiraTeresa de Souza FernandezPublished in: Journal of clinical medicine (2023)
This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS.