Types

Defectos en un único Gen

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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Genetic and Congenital Conditions

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

Overview of autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease.

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Genetic and Congenital Conditions

Structural Abnormalities: Deletions (Cri-du-Chat Syndrome) and Duplications (Pallister-Killian Syndrome)

Detailed information on structural abnormalities, including chromosome deletions and duplications.

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Genetic and Congenital Conditions

Trinucleotide Repeats: Fragile X Syndrome

Detailed information on trinucleotide repeats, including fragile X syndrome.

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Genetic and Congenital Conditions

Types of Chromosome Abnormalities

Detailed information on the different types of chromosome abnormality

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Defectos en un único Gen

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Related Articles

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

Structural Abnormalities: Deletions (Cri-du-Chat Syndrome) and Duplications (Pallister-Killian Syndrome)

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities

Defectos en un único Gen

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Personalized care starts with the right provider

Related Articles

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

Structural Abnormalities: Deletions (Cri-du-Chat Syndrome) and Duplications (Pallister-Killian Syndrome)

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities