22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Schizophrenia

A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.


Total: 10

                       


(per page)
PMID (PMCID)
30397574
(6213892)
 OTHER
Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome.
Ruhe AM, Qureshi I, Procaccini D.
Ment Health Clin. 2018;8(6):313-316.
DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine.
30345199
(6188160)
 OTHER
Schizophrenia in DiGeorge Syndrome: A Unique Case Report.
Rizvi S, Khan AM, Saeed H, Aribara AM, Carrington A, Griffiths A, Mohit A.
Cureus. 2018;10(8):e3142.
Schizophrenia in DiGeorge Syndrome: A Unique Case Report.
30345199
(6188160)
 OTHER
Schizophrenia in DiGeorge Syndrome: A Unique Case Report.
Rizvi S, Khan AM, Saeed H, Aribara AM, Carrington A, Griffiths A, Mohit A.
Cureus. 2018;10(8):e3142.
Second, this case highlights the strong genetic predisposition for schizophrenia in patients with DiGeorge syndrome.
28202261
 MALE
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
Duarte M, Afonso J, Moreira A, Antunes D, Ferreira C, Correia H, Marques M, Sequeira S.
Brain Dev. 2017;39(6):539-541.
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder.
28202261
 MALE
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
Duarte M, Afonso J, Moreira A, Antunes D, Ferreira C, Correia H, Marques M, Sequeira S.
Brain Dev. 2017;39(6):539-541.
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder.
17403981
 MIXED_SAMPLE Child
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.
Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, Kwon H, Eliez S, Reiss AL.
Am J Psychiatry. 2007;164(4):663-9.
The 22q11.2 deletion syndrome is the most common known genetic risk factor for the development of schizophrenia.
10596254
 MIXED_SAMPLE
Velocardiofacial syndrome in childhood-onset schizophrenia.
Usiskin SI, Nicolson R, Krasnewich DM, Yan W, Lenane M, Wudarsky M, Hamburger SD, Rapoport JL.
J Am Acad Child Adolesc Psychiatry. 1999;38(12):1536-43.
Deletion of chromosome 22q11 (velocardiofacial syndrome) is associated with early neurodevelopmental abnormalities and with schizophrenia in adults.
9828993
 MALE Adult
Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome.
Vataja R, Elomaa E.
Br J Psychiatry. 1998;172:518-20.
A 32-year-old male patient with CATCH 22 syndrome and schizophrenia had extensive midline anomalies of the brain in the regions relevant to psychotic disorders.
9828993
 MALE Adult
Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome.
Vataja R, Elomaa E.
Br J Psychiatry. 1998;172:518-20.
Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome.
9828993
 MALE Adult
Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome.
Vataja R, Elomaa E.
Br J Psychiatry. 1998;172:518-20.
Since people with chromosome 22q11 deletion (CATCH 22 syndrome) have unexpectedly high incidence of major psychosis it has been suggested that 22q area might be involved in the pathogenesis of schizophrenia and bipolar disorders.