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  • Title: [Osteosarcoma and ATR-16 syndrome: association or coincidence?].
    Author: Regueiro García A, Saborido Fiaño R, González Calvete L, Vázquez Donsión M, Couselo Sánchez JM, Fernández Sanmartín M.
    Journal: An Pediatr (Barc); 2015 Jan; 82(1):e189-91. PubMed ID: 24631100.
    Abstract:
    ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma.
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