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

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

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

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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Single Gene Defects

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Related Articles

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

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

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities

Single Gene Defects

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Related Articles

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

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

Trinucleotide Repeats: Fragile X Syndrome

Types of Chromosome Abnormalities