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Male, age 8 Caucasian with features of DiGeorge syndrome. DiGeorge syndrome is a condition that can cause multiple medical problems, including heart defects, poor immune system function, a cleft palate, and delayed development. DiGeorge syndrome is also known as 22q11.2 deletion syndrome and velocardiofacial syndrome, and is typically caused by a deletion on chromosome 22.
The participant’s mother and sister are similarly affected, but testing for the deletion on chromosome 22 has been negative.
|Date of Report||April 14, 2016|
|Description||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.|
|Previously Considered Diagnoses||22q11.2 deletion syndrome (also known as velocardiofacial syndrome and DiGeorge syndrome)|
|Genetic Variants of Interest||Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:|
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
|TBX2*||autosomal dominant||chr17:59477596||NM_005994.3||c.59G>A|| p.R20Q
GeneCards: GC17P061399 NCBI Gene: 6909 OMIM: 600747 UniProtKB/Swiss-Prot: Q13207
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