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child:genetic-disorders:digeorge-syndrome-22q11.2-22q-deletion [on April 11, 2019]
child:genetic-disorders:digeorge-syndrome-22q11.2-22q-deletion [on April 17, 2019]
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-{{INLINETOC}} 
 ====== DiGeorge (22q11.2 Deletion) Syndrome ====== ====== DiGeorge (22q11.2 Deletion) Syndrome ======
 +{{INLINETOC}}
 ===== Primer ===== ===== Primer =====
 **DiGeorge Syndrome** (also known as 22q11.2 Deletion Syndrome, and formerly Velocardiofacial Syndrome) is a syndrome caused by the deletion of a small segment (microdeletion) of chromosome 22. It is the most common microdeletion syndrome in humans. This microdeletion is also responsible for a 20 to 30 times increased risk for [[psychosis:​schizophrenia-scz|schizophrenia]],​ which equates to 1 in 4 individuals developing schizophrenia. In addition, individuals often have congenital heart problems, facial dysmorphia, developmental delay, learning problems, and cleft palate. Renal impairment, hearing loss, infections, and autoimmune disorders are also common. **DiGeorge Syndrome** (also known as 22q11.2 Deletion Syndrome, and formerly Velocardiofacial Syndrome) is a syndrome caused by the deletion of a small segment (microdeletion) of chromosome 22. It is the most common microdeletion syndrome in humans. This microdeletion is also responsible for a 20 to 30 times increased risk for [[psychosis:​schizophrenia-scz|schizophrenia]],​ which equates to 1 in 4 individuals developing schizophrenia. In addition, individuals often have congenital heart problems, facial dysmorphia, developmental delay, learning problems, and cleft palate. Renal impairment, hearing loss, infections, and autoimmune disorders are also common.
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 <callout type="​danger"​ title="​Antipsychotics Can Mask Early-Onset Parkinson'​s Symptoms in DiGeorge + Schizophrenia Patients"​ icon="​true">​ <callout type="​danger"​ title="​Antipsychotics Can Mask Early-Onset Parkinson'​s Symptoms in DiGeorge + Schizophrenia Patients"​ icon="​true">​
-Individuals with DiGeorge have a higher risk for early-onset [[geri:​parkinsons|Parkinson'​s Disease]].[([[https://​www.ncbi.nlm.nih.gov/​pubmed/​24018986|Butcher,​ N. J., Kiehl, T. R., Hazrati, L. N., Chow, E. W., Rogaeva, E., Lang, A. E., & Bassett, A. S. (2013). Association between early-onset Parkinson disease and 22q11. 2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA neurology, 70(11), 1359-1366.]])] As a result, individuals with concomitant schizophrenia and on long-term antipsychotic treatment may have their emerging Parkinson'​s symptoms masked and mistakenly attributed as [[meds:side-effects:​eps|extrapyramidal symptoms]].+Individuals with DiGeorge have a higher risk for early-onset [[geri:​parkinsons|Parkinson'​s Disease]].[([[https://​www.ncbi.nlm.nih.gov/​pubmed/​24018986|Butcher,​ N. J., Kiehl, T. R., Hazrati, L. N., Chow, E. W., Rogaeva, E., Lang, A. E., & Bassett, A. S. (2013). Association between early-onset Parkinson disease and 22q11. 2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA neurology, 70(11), 1359-1366.]])] As a result, individuals with concomitant schizophrenia and on long-term antipsychotic treatment may have their emerging Parkinson'​s symptoms masked and mistakenly attributed as [[meds:antipsychotics:​eps|extrapyramidal symptoms]].
 </​callout>​ </​callout>​
 ===== Pathophysiology ===== ===== Pathophysiology =====