Detection of chromosomal rearrangements in familial or non-familial schizophrenia patients by using conventional cytogenetic and molecular cytogenetic techniques

The family, twins and adoption studies concerning schizophrenia revealed that the main risk factor for the schizophrenia is the presence of a relative with schizophrenia.As the possible rich gene content which are important for central nervous system development, it is logical to consider the subtelomeric FISH studies in the investigation of neuropsychiatric disorders. In recent years, the case reports with subtelomeric rearrangement and schizophrenia are published and lead us to hypothesize that if there is a relation between subtelomeric rearrangements and schizophrenia. Besides, deletion of an another region, the 22q11.2, has been related with schizophrenia. 22q11.2 is a suitable target for FISH study with its specific probe and included in this project.The familial schizophrenia cases and their first degree relatives were the objects of this study. Dysmorphic examination and karyotyping (HRB) of all objects have been done. FISH studies were restricted to probands. The dysmorphic examination revealed the increased frequency of obesity, ear, and palate abnormalities among schizophrenia patients which was consistent with previous reports. Although our study also revealed the increased frequency of pallor among patients which is not mentioned before. In one of our family we have identified a girl wtih trisomy X and her mother with mosaic Turner syndrome.Although the subtelomeric and VCFS specific FISH studies ended with normal results; more studies including large number of patients and more sensitive technics are needed to clarify or to exclude the association between subtelomeric rearrangements and schizophrenia.