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

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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Genetic and Congenital Conditions

Fetal Alcohol Spectrum Disorder (FASD)

A baby born to a mother who drinks alcohol during pregnancy can have many problems. This is called fetal alcohol spectrum disorder (FASD).

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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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Single Gene Defects

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Related Articles

Medical Genetics: DNA Studies for Single Gene Defects

Fetal Alcohol Spectrum Disorder (FASD)

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

Trinucleotide Repeats: Fragile X Syndrome

Single Gene Defects

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Related Articles

Medical Genetics: DNA Studies for Single Gene Defects

Fetal Alcohol Spectrum Disorder (FASD)

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

Trinucleotide Repeats: Fragile X Syndrome