Medical Genetics

A teratogen is something that can cause or raise the risk for a birth defect in a baby. They are things that a mother may be exposed to during her pregnancy.

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

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds the body's cells, organs, and other tissue together. Connective tissue is also important in growth and development.

A birth defect is a health problem or abnormal physical change that is present when a baby is born. Birth defects can be very mild, where the baby looks and acts like any other baby. Or birth defects can be more severe.

Detailed information on biochemical genetic testing

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

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

When a chromosome is abnormal, it can cause health problems in the body. Tests called studies can look at chromosomes to see what type of problem a person has.

Genetic counseling gives you information about health concerns that run in your family.

Genetic changes come in 2 main types: chromosome abnormalities and single-gene defects.

Phenytoin is a medicine used to treat seizures (epilepsy). But the medicine can cause birth defects if a woman takes it during pregnancy.

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

Chromosome problems usually happen as a result of an error when cells divide.

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

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

Detailed information on medical history and genetic testing

Detailed information on mitochondrial inheritance and Leber's optic atrophy

Mosaicism is when a person has 2 or more genetically different sets of cells in his or her body.

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

Multifactorial inheritance is when more than one factor causes a trait or health problem, such as a birth defect or chronic illness. The main factor is genes. But the cause includes other factors that aren't genes.

Detailed information on evaluating a child for birth defects

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

Information on numerical abnormalities, including an overview on trisomies and monosomies

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.

Overview of autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease

Genetic services are programs that help support families and children with genetic disorders.

Detailed information on single gene defects and patterns of inheritance

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

Detailed information on structural abnormalities, including chromosome deletions and duplications

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.

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

Detailed information on examples of teratogens

Detailed information on teratogens and non-teratogenic agents

Detailed information on testing for birth defects

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

Genetic testing can help find diseases that run in a family or don't yet have symptoms.

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.

Gene therapy is a way to change the genes a person has. Enzyme therapy treats a genetic condition by replacing a certain enzyme.

Detailed information on x-linked dominant inheritance

Detailed information on x-linked recessive inheritance

Down syndrome is a genetic disorder that includes certain birth defects, learning problems, and facial features.

Dyskeratosis congenita is a congenital disease. This means it is present at birth. It affects the skin and nails. In its most severe form, it causes bone marrow failure. When bone marrow doesn't make enough blood cells, it can be life-threatening.

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