Types

Single Gene Defects

Many different single gene defects require clinical care by a doctor or other healthcare professional. Click on the links below to learn more about this topic.

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

X-linked Recessive: Red-Green Color Blindness, Hemophilia A

X-linked Dominant: Incontinentia Pigmenti

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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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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

Medical Genetics: DNA Studies for Single Gene Defects

To look for single gene defects, healthcare providers look at the DNA to see if it has any errors in it. Errors are known as mutations.

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Single Gene Defects

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Related Articles

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities

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

Medical Genetics: DNA Studies for Single Gene Defects

Single Gene Defects

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Related Articles

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities

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

Medical Genetics: DNA Studies for Single Gene Defects