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K.,3!$'T4'D*,&!.#(&'%.$,)01#./&
EC con bandeo G y/o A.R.
Estudio molecular de Fra-X FISH subteloméricos* RMN o TAC Pruebas metabólicas MLPA**
CGH-microarray*
ALGORITMO DE ESTUDIO PARA NIÑOS CON RETARDO MENTAL
Diagnóstico Se confirma con alguno de estos estudios:
Estudios radiológicos. Consulta oftalmológica u otros Estudio cromosómico con bandeo G y/o alta resolución FISH zona específica
Prueba de metilación MLPA**
Pruebas metabólicas Estudio molecular de Fra-X RMN y/o TAC de cerebro
Otros estudios moleculares específicos**
Asesoramiento genético Eventual pronóstico
Manejo adecuado del paciente Detección de otros portadores Eventual diagnóstico prenatal
Sospecha de diagnóstico clínico específico Sin sospecha clínica específica
Consultas adicionales con otros especialistas.
Revaluación clínico-genética a intervalos regulares.
No diagnóstico
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