18
Mar
Clinical features of 22q11.2 deletion syndrome
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Clinical features of 22q11.2 deletion syndrome also known as DiGeorge syndrome. The authors analyzed clinical manifestations of DiGeorge syndrome caused by deletion 22q11.2 in a large cohort of patients in one Israeli hospital. The studied group included 98 patients. Diagnosis was confirmed by cytogenetic examination in all cases. Males and... Read More
08
Feb
Common neuropsychiatric features in 22q11.2 deletion syndrome
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome 22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains. This article analyzes neurological and psychiatric characteristics... Read More
