Sindrome X frágil en una Familia Colombiana

Wilmar Saldarriaga-Gil, Randi Hagerman, Maria Jimena Salcedo, Flora Tassone, Julian Ramirez-Cheyne, Marisol Silva

Resumen


Se realizó un estudio descriptivo a una familia de Cali, Colombia, en el cual se evaluaron nueve pacientes, tres de los cuales presentaban discapacidad intelectual sin diagnóstico etiológico anterior. El caso índice fue diagnosticado con el síndrome X frágil mediante pruebas moleculares de ADN. Se realizaron pruebas en cascada a todos los miembros de la familia disponibles, identificando dos individuos adicionales con la mutación completa y cuatro portadores del alelo con pre mutación. Con este informe pretendemos contribuir a la epidemiología colombiana del síndrome y destacamos la importancia del diagnóstico etiológico de la discapacidad intelectual y proporcionar un tratamiento integral y específico a las personas afectadas. Además se busca identificar a los portadores de la pre mutación o mujeres con mutación completa sin fenotipo clásico para el asesoramiento genético y la educación sobre posibles patologías asociadas.


Palabras clave


Consejería Genética; Discapacidad Intelectual; FMRP; Síndrome de X Frágil

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Referencias


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DOI: https://doi.org/10.17533/udea.iatreia.v31n1a07 Resumen : 3067 PDF (English) : 1340

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