A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

摘要: Background: Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been focus much recent research because their discovery in a percentage people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) various severities intellectual impairment or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence schizophrenia around three times greater those mild retardation. The rates bipolar disorder and major depressive also reported increased We describe here screen for telomeric cohort 69 patients which co-exists severe psychiatric illness. Methods: applied two techniques, fluorescence situ hybridisation (FISH) multiplex amplifiable probe (MAPH) to detect patient group. Results: A deletion was discovered involving loss 4q co-morbid schizoaffective Conclusion: precise region has defined allowing us identify genes may contribute phenotype through hemizygosity. Interestingly, exactly matches linked affective large multiply affected Australian kindred.