Medical Genetics

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  1. Autosomal Dominant: Marfan Syndrome

    Detailed information on Marfan Syndrome, one type of autosomal dominant condition

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

    Detailed information on autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease

  3. Before Your Next Pregnancy

    Are you ready to start thinking about a younger sibling for your baby? If so, here’s what you need to keep in mind before you prepare to keep growing your family.

  4. Biochemical Genetic Testing

    Detailed information on biochemical genetic testing

  5. Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism

    Detailed information on mosaicism and the chance that a chromosome abnormality will occur again

  6. Chromosome Abnormalities

    Detailed information on chromosome abnormalities, including trisomies, monosomies, and genetic translocations

  7. Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis

    Detailed information on what type of testing is available to determine whether a child has a genetic birth defect

  8. Down Syndrome (Trisomy 21)

    Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects.

  9. Dyskeratosis Congenita

    Dyskeratosis congenita is a congenital disease, meaning it is present at birth. It was initially thought to only affect the skin and nails, but today experts understand that dyskeratosis congenita in its most severe form causes bone marrow failure.

  10. Evaluating a Child for Birth Defects

    Detailed information on evaluating a child for birth defects

  11. Examples of Non-Teratogenic Agents

    Detailed information and examples of non-teratogenic agents

  12. Examples of Teratogens

    Detailed information on examples of teratogens

  13. Fetal Alcohol Syndrome

    Fetal alcohol syndrome refers to a group of abnormalities in babies born to mothers who drink during pregnancy. The problems include small head and brain, facial abnormalities, and defects of other organs.

  14. Genetic Services for Children: When, Where, How

    Detailed information on genetic services, including when, where, and how

  15. Glossary - Medical Genetics

    Glossary of terms relating to medical genetics

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