Variante cromosómica en síndrome Klinefelter, 49, XXXXY: reporte de un caso en un paciente colombiano
DOI:
https://doi.org/10.17533/10.17533/udea.hm.v12n1a06Palavras-chave:
aneuploidía cromosómica, cariotipo, cromosomas sexuales, fenotipo, Síndrome de Klinefelter, 49,XXXXYResumo
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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