Uniparental Disomy: Prader-Willi Syndrome and Angelman Syndrome
Detailed information on uniparental disomy, including information about Prader-Willi syndrome and Angelman syndrome.
Detailed information on uniparental disomy, including information about Prader-Willi syndrome and Angelman syndrome.
Detailed information on the different types of chromosome abnormality
Detailed information on trinucleotide repeats, including fragile X syndrome.
Detailed information on translocation Down syndrome
Detailed information on testing for birth defects
Detailed information on teratogens and non-teratogenic agents
Detailed information on examples of teratogens
Detailed information on finding a support group for parents affected by a birth defect.
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 structural abnormalities, including chromosome deletions and duplications.