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

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

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.

Detailed information on biochemical genetic testing

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

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

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

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.

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.

Detailed information on evaluating a child for birth defects

Detailed information and examples of nonteratogenic agents

Detailed information on examples of teratogens

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.

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

Glossary of terms relating to medical genetics

Detailed information on medical genetics, including chromosome abnormalities, single gene defects, multifactorial inheritance, teratogens, and non-traditional inheritance

Chromosome abnormalities usually happen as a result of an error in cell division.

Detailed information on the identification, treatment, and prevention of birth defects

Detailed information on identifying teratogens

Detailed information on medical history and genetic testing

Detailed information on mitochondrial inheritance and Leber's optic atrophy

Detailed information on mosaic Down syndrome, including the chances for it to happen again in a family

Detailed information on mosaicism, including a mosaicism diagram

Detailed information on multifactorial inheritance, including different multifactorial traits and diseases

Detailed information on nontraditional inheritance, including uniparental disomy and Prader-Willi Syndrome and Angelman Syndrome, trinucleotide repeats and Fragile-X Syndrome, and mitochondrial inheritance and Leber's Optic Atrophy

Detailed information on numerical abnormalities, including an overview on trisomies and monosomies

List of online resources to find additional information on medical genetics

Detailed information on other chromosome arrangements, including rings and inversions

A "birth defect" is a health problem or physical change that is present in a baby at the time he/she is born.

Detailed information on chromosome abnormalities, including how a chromosome is inherited

Every state requires newborn babies to be screened for birth defects that may not be apparent from a physical exam. Generally, the baby’s heel is pricked to draw a blood sample soon after birth. Here is what is done with your baby’s blood.

Detailed information on single gene defects and patterns of inheritance

Detailed information on phenytoin (Dilantin) and its role in the development of Fetal Hydantoin Syndrome

Detailed information on single gene defects and patterns of inheritance

Detailed information on structural abnormalities, including chromosome deletions and duplications

Detailed information on studies for single gene defects, including DNA direct and indirect studies

Detailed information on finding a support group for parents affected by a birth defect

Detailed information on teratogens and non-teratogenic agents

Detailed information on testing for birth defects

A person can have normal chromosomes in number and structure, but still have a disease or condition caused by a mutation in one or more of the genes on the chromosomes.

Detailed information on the Human Genome Project how it relates to the identification and treatment of cancer

Detailed information on medical genetics, including chromosome abnormalities, single gene defects, multifactorial inheritance, teratogens, and non-traditional inheritance

Detailed information on translocation Down syndrome

Detailed information on chromosome translocations, including reciprocal translation and Robertsonian translocation

Detailed information on trinucleotide repeats, including fragile X syndrome

Detailed information on the different types of chromosome abnormality

Detailed information on uniparental disomy

Detailed information on the uses of genetic testing

Did you have chickenpox as a child? Then you’ve got nothing to worry about from varicella. But if you didn’t, you may not be immune to this infectious disease that can cause complications for a pregnant woman and her baby. Read more to find out why and how to protect yourself.

Detailed information on vitamin, gene, and enzyme replacement therapy

A family history of certain diseases or disorders or certain factors affecting the pregnancy itself may be reasons to visit a genetic counselor.

Detailed information on x-linked dominant inheritance

Detailed information on x-linked recessive inheritance