There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
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Medical Genetics: DNA Studies for Single Gene Defects
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.
Fetal Alcohol Spectrum Disorder (FASD)
A baby born to a mother who drinks alcohol during pregnancy can have many problems. This is called fetal alcohol spectrum disorder (FASD).
Trinucleotide Repeats: Fragile X Syndrome
Detailed information on trinucleotide repeats, including fragile X syndrome.
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.
