Apr 14, 2016
The patient was born with a cleft lip, cleft palate, atrial septal defect, skeletal abnormalities, and absent thymus with severe T-cell deficiency. At 6 months, he underwent a thymus transplant and was diagnosed with complete DiGeorge syndrome. He later developed inflammation of the thyroid gland with hypothyroidism, followed by hyperthyroidism. At 3 years, he was found to have early learning, communication, and social-emotional delays. At 6 years old, his cognitive ability was average, but he still had delays in verbal, math, and reading comprehension skills. While he does show some autistic behaviors, he does not meet criteria for an autism spectrum disorder. He has been diagnosed with ADHD. His mother and sister have similar, milder symptoms.
22q11.2 deletion syndrome (also known as velocardiofacial syndrome and DiGeorge syndrome)
Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us
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