Digeorge syndrome is characterized by?
Correct Answer: Thymic aplasia
Description: Ans. is 'b' i.e., Thymic hypoplasia DiGeorge syndrome (22q11.2 deletion syndrome)* It is one of a group of phenotypically similar disorders--including velocardiofacial syndrome (VCFS, or Shprintzen syndrome) and conotruncal anomaly face (CTAF) syndrome--that share a microdeletion of the region, known as the DGS critical region, on chromosome 22 at band 22ql 1.2.* It is an autosomal dominant disorder* While the symptoms can be variable they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems, and cleft palate. Associated condition include kidney problems, hearing loss, and autoimmune disorders such as rheumatoid arthritis and Graves disease.* Salient features can be summarized using the mnemonic CATCH-22 to describe 22qll.2 deletion syndrome, with the 22 signifying the chromosomal abnormality is found on the 22nd chromosome, as below:a) Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)b) Abnormal faciesc) Thymic aplasiad) Cleft palatee) Hypocalcemia/Hypoparathyroidism* Later in life, they are at an increased risk of developing mental illnesses (such as schizophrenia, depression, anxiety, and bipolar disorder) and thrombocytopenia.
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