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

Testing for Birth Defects

Detailed information on testing for birth defects

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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

Genetic Disorders Associated with Congenital Heart Disease

Detailed information on congenital heart disease, including patent ductus arteriosus, atrial septal defect, ventricular septal defect, atrioventricular canal, tricuspid atresia, pulmonary atresia, transposition of the great arteries, tetralogy of Fallot, double outlet right ventricle, truncus arteriosus, coarctation of the aorta, aortic stenosis, and hypoplastic left heart syndrome

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Single Gene Defects

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Related Articles

Testing for Birth Defects

Types of Chromosome Abnormalities

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

Genetic Disorders Associated with Congenital Heart Disease

Single Gene Defects

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Related Articles

Testing for Birth Defects

Types of Chromosome Abnormalities

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

Genetic Disorders Associated with Congenital Heart Disease