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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 Fernandez Seixas
Published 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.
Keyphrases
  • copy number
  • mental health
  • genome wide
  • bone marrow
  • acute myeloid leukemia
  • health information
  • dna repair
  • smoking cessation
  • gene expression
  • dna damage
  • healthcare
  • hiv testing
  • young adults
  • high grade
  • social media