title: [Osteosarcoma and ATR-16 syndrome: association or coincidence?].
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.
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España. Electronic address: alexandra.regueiro.garcia@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Regueiro García
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: R
authors.initials: R
authors.lastname: Saborido Fiaño
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: L
authors.initials: L
authors.lastname: González Calvete
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: M
authors.initials: M
authors.lastname: Vázquez Donsión
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Couselo Sánchez
authors.affiliation: Servicio de Hematología y Oncología Pediátrica, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, España.
authors.forename: M
authors.initials: M
authors.lastname: Fernández Sanmartín
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D012516:Osteosarcoma / Q000150:complications*; D017085:alpha-Thalassemia / Q000150:complications*
keywords: ATR-16 syndrome; Chromosome 16p; Cromosoma 16p; Osteosarcoma; Síndrome ATR-16