Existen muchos defectos diferentes en un único gen que requieren el cuidado clínico de un médico o de otro profesional de la salud. En el siguiente directorio se enumeran algunos de ellos, para los cuales le proveemos una breve descripción.
Descripción General de los Defectos en un único Gen
Autosómico Dominante: Síndrome de Marfan
El Carácter Autosómico Recesivo: la Fibrosis Quística, la Anemia Drepanocítica o de Células Falciformes, la Enfermedad de Tay Sachs
El Carácter Recesivo Ligado al Cromosoma X: el Daltonismo para Distinguir el Color Rojo y el Verde, Hemofilia A
El Carácter Dominante Ligado al Cromosoma X: la Incontinencia Pigmentaria
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