Duchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually having children with the disease. We proposed her to get involved in a pilot program for carrier-status diagnosis and genetic counseling. This case illustrates the importance of a genetic counseling program for diagnosis of asymptomatic carriers in neurogenetic diseases, particularly in regions with low-resource settings. We discussed successes and misunderstandings faced throughout the process, supporting policies for present and future challenges from this and similar kinds of diagnoses.

El Síndrome Li-Fraumeni es un síndrome causado por variantes patogénicas en el gen TP53 y conlleva a riesgo aumentado para desarrollar neoplasias malignas de tejido blando, hueso, mama, cerebro, carcinomas adrenocorticales y leucemias a edad temprana. El objetivo del presente estudio es describir las características clínicas y moleculares de los pacientes con diagnóstico Síndrome Li-Fraumeni diagnosticados en Instituto Nacional de Enfermedades Neoplásicas. Se realizará un estudio observacional, descriptivo, retrospectivo, y se incluirá a los pacientes con el diagnóstico molecular. Se utilizará una ficha de recolección de datos que será elaborada para este estudio, los datos obtenidos se ingresarán en una base de Microsoft Excel y se utilizará estadística descriptiva para los resultados.

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Molecular genetic testing has limited access in many regions across the world, especially in developing countries. The iHope program philanthropically provides clinical genome sequencing (cGS) to individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing.