What Conditions are Associated with Genomic Imbalances?
Genomic imbalances can be associated with a wide range of conditions, some of which are:
- Down Syndrome: Caused by an extra copy of chromosome 21. - Turner Syndrome: A condition in females where one of the X chromosomes is missing or partially missing. - DiGeorge Syndrome: Resulting from a deletion on chromosome 22q11.2. - Williams Syndrome: Caused by a deletion on chromosome 7q11.23.
These conditions can result in a variety of symptoms, including intellectual disabilities, congenital heart defects, and growth abnormalities.