Variante cromosómica en síndrome Klinefelter, 49, XXXXY: reporte de un caso en un paciente colombiano

  • Maria Fernanda Jácome Hernández Laboratorio Medico Echavarria https://orcid.org/0000-0001-7659-0324
  • Andrea Katerine Melo Vargas Laboratorio Médico Echavarría
  • Cladelis Rubio Gómez Laboratorio Médico Echavarría
  • Yermis Carolina Rocha Arrieta Laboratorio Médico Echavarría
Palabras clave: aneuploidía cromosómica, cariotipo, cromosomas sexuales, fenotipo, síndrome Klinefelter, 49,XXXXY

Resumen

El síndrome Klinefelter (47,XXY) es la aneuploidía cromosómica sexual más frecuente en los hombres (1:650 varones nacidos vivos), el fenotipo clásico es talla alta, infertilidad, ginecomastia, testículos y pene pequeños. El síndrome 49,XXXXY es la variante cromosómica menos común del síndrome de Klinefelter con una presentación clínica más severa. En el presente artículo describimos el primer caso de un paciente colombiano con síndrome 49,XXXXY, quien presenta rasgos dismórficos llamativos, alteraciones musculo esqueléticas y retardo global del desarrollo y del lenguaje.  

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Biografía del autor/a

Yermis Carolina Rocha Arrieta, Laboratorio Médico Echavarría

Grupo de Investigación Laboratorio Médico Echavarría. 

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Publicado
2021-05-02
Cómo citar
Jácome HernándezM. F., Melo VargasA. K., Rubio GómezC., & Rocha ArrietaY. C. (2021). Variante cromosómica en síndrome Klinefelter, 49, XXXXY: reporte de un caso en un paciente colombiano. Hechos Microbiológicos, 12(1), 56-63. https://doi.org/10.17533/10.17533/udea.hm.v12n1a06
Sección
Presentación de casos