Diagnosis-2q23.1 – Microdeletion Syndrome
Asia has 2q23.1 Microdeletion Syndrome. She was diagnosed winter of 2013 at the age of 6. She has a deleted portion of her Chromosome 2. At the time there were 100 documented cases in the world. This number is rising with new technology and reporting. Asia’s geneticist who has been practicing for 30+ years said she was the first with this syndrome he had ever seen. By several of her doctors, we were referred to Face Book pages and family blogs for help. There were a couple of articles written in medical journals and that was all we had available for medical information. There are currently no known causes of this type of deletion.