Abstract
The 22q11.2 deletion syndrome is caused by a microdeletion of chromosome 22. One third of all patients with 22q11.2 deletion develop schizophrenia-like symptoms. In general, the prevalence of 22q11.2 deletion in patients with schizophrenia is 1%–2%. The 22q11.2 deletion is one of the major known genetic risk factors for schizophrenia. However, clinical differences in the phenotypes between patients with schizophrenia who are 22q11.2 deletion carriers and those who are not are still unknown. Therefore, it may be difficult to diagnose 22q11.2 deletion in patients with schizophrenia on the basis of clinical symptoms. To date, only two Japanese patients with the deletion have been identified through microdeletion studies of patients with schizophrenia in the Japanese population. Herein, we report the case study of a 48-year-old Japanese woman with 22q11.2 deletion who had a 30-year history of schizophrenia. Based on craniofacial anomalies, unpredictable agitation, hypocalcemia, and brain imaging finding, we suspected the 22q11.2 deletion in clinical populations and diagnosed the deletion using fluorescence in situ hybridization analysis. To find common phenotypes in Japanese patients with the deletion who have schizophrenia-like symptoms, we compared phenotypes among three Japanese cases. The common phenotypes were an absence of congenital cardiovascular anomalies and the presence of current findings of low intellectual ability, agitation, and hypocalcemia. We propose that hypocalcemia and agitation in patients with schizophrenia may derive from the 22q11.2 deletion, particularly when these phenotypes are coupled with schizophrenia-like symptoms.
Highlights
The 22q11.2 deletion syndrome (Online Mendelian Inheritance in Man (OMIM) 611867, known as the Velocardiofacial syndrome, Online Mendelian inheritance in man (OMIM) 192430, or DiGeorge syndrome, OMIM 188400) is caused by a microdeletion (1.5–3 Mb) of chromosome 22, with an estimated prevalence of 1 in 4,500 live births [1]
It may be less likely for clinicians to suspect and diagnose the 22q11.2 deletion syndrome in schizophrenia patients based on clinical symptoms alone
Hypocalcemia, brain imaging finding, and psychiatric symptoms such as agitation, we suggest that the 22q11.2 deletion syndrome may be suspected and diagnosed in patients
Summary
The 22q11.2 deletion syndrome (Online Mendelian Inheritance in Man (OMIM) 611867, known as the Velocardiofacial syndrome, OMIM 192430, or DiGeorge syndrome, OMIM 188400) is caused by a microdeletion (1.5–3 Mb) of chromosome 22, with an estimated prevalence of 1 in 4,500 live births [1]. Hypocalcemia, brain imaging finding, and psychiatric symptoms such as agitation, we suggest that the 22q11.2 deletion syndrome may be suspected and diagnosed in patients. Case presentation The patient was a 48-year-old Japanese woman who was diagnosed 30 years previously with schizophrenia according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV, previously used the Third Edition) She was delivered with forceps due to maternal fatigue (birth weight 2,500 g). At the time of this report, she was 48 years old and was being treated with antipsychotics (risperidone 12 mg/day), with a relatively good control of psychotic symptoms She had persistent irritability, emotional lability, and unpredictable agitation. We diagnosed the patient as having 22q11.2 deletion syndrome
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
