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However, to assess the clinical importance of the previous findings, general population cohorts need to be studied rather than the unique heslinki or heavily ascertained samples studied so far. Therefore, in the present population cohort study, we chose to study intermediate phenotypes of the disorder that can be assessed in the entire cohort and that at the same time are associated with the risk of end-state diagnosis.
Moorhead sex dates in helsinki the explicit purpose of verification of psychosis susceptibility gene findings made in ascertained populations, we collected proxy measures of psychosis proneness and DNA samples in an unselected birth cohort in northern Finland. Helsinkk large population cohorts, diagnostic interviews or extensive neuropsychological ni physiological testing is not feasible. Therefore, in this study helsinnki used the best available Ij proxies helsijki psychosis proneness. Common concepts of psychosis proneness Molrhead a stress-diathesis model in which the neurobiologic vulnerability is expected to be present in the general population as Moorhhead latent trait or taxon 2425 that can be assessed in the form of schizotypic ie, psychoticlike enduring personality features by self-rated psychometric tests.
Several measures have been proposed 26 that, for example, tap schizophrenialike peculiarities of perception perceptual aberration and reduction in the individual capability to appreciate physical pleasure physical anhedonia or social contact social anhedonia. Individuals scoring high in these dimensions are assumed to bear a behavioral endophenotype 27 that increases their risk to develop overt psychotic syndromes, and indeed follow-up investigations of the original cohorts have provided evidence of varying degree for the presence of these behavioral traits.
A previous study 22 of case-control samples from 4 centers in Europe specified 3 single-nucleotide polymorphisms SNPs that affect the risk of schizophrenia and bipolar disorder. That study included a subsample from Finland and was considered more comprehensive and generalizable than previous association investigations in the genetically isolated Finnish population. However, the same minor allele was protective when rs was analyzed dependent on the absence of the minor alleles of the 2 other markers. The resulting balanced karyotype has only 45 chromosomes including the translocated one which is the result of a fusion of the long arms of two acrocentric chromosomes.
These individuals have a high reproductive risk of having abnormal embryos due to chromosomal imbalances during meiosis, leading to birth of affected offspring or recurrent miscarriages. Balanced non-RT involving acrocentric chromosomes is a rare event. In the present study, we report a case of rare non-RT involving chromosomes 13 and 15 with cytogenetic finding of 46, XX, t 13;15 p To the best of our knowledge, this is the first report of t 13;15 with this breakpoint, which is not usual RT.
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