BACKGROUND: Fetal effects of radiation are associated with the gestational week of exposure, dose, and duration of exposure, but the perception of risk of radiation in expecting mothers is greater than the actual risk of physical effects. OBJECTIVES: Evaluate the overestimation of the teratogenic risk in women exposed to radiation and the role of teratological counseling in minimizing preconceptions. DESIGN: Analytical, cross-sectional. SETTING: Tertiary care center, genetic diseases diagnosis center. PATIENTS AND METHODS: Out of 10 784 people who applied for teratological consultation between 2009 and 2018, pregnant women meeting inclusion criteria and exposed to radiation were selected as the study group; pregnant women without radiation exposure were selected as the control group. Two subgroups of the study group based on the week and dose of exposure were also analyzed. MAIN OUTCOME MEASURES: Abortion rate, termination recommendation rates before and after teratological counseling. SAMPLE SIZE:: 461 pregnant exposed to radiation; 213 pregnant women without radiation exposure. RESULTS: Preterm birth and termination rates differed significantly between cases and controls ( P =.038, P =.019, respectively). Termination recommendation at the first examination was more frequent for both the week of exposure overall and dose subgroups comparing cases and controls ( P <.001). In the comparison of subgroups by week of exposure, only the miscarriage rate was statistically significant ( P =.007). After teratological counseling termination decision rates were significantly decreased ( P <.001). CONCLUSION: Subjective perceptions about the risks of radiation may lead to the termination of an otherwise wanted pregnancy. Teratological counseling is crucial for the prevention of termination of pregnancy, clarifying misinformation, and minimizing anxiety. LIMITATIONS: With the exception of measurable values as calculated doses of radiation, the conclusions are mostly derived from medical records and subjective responses of pregnant women. The termination rates in our study probably do not reflect the whole population. CONFLICT OF INTEREST: None.

Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1 gene was detected in patients with deep venous thrombosis. In this study, the PAI-1 gene variant and its plasma levels in KS patients were examined. Forty-one KS patients (47, XXY) and 50 age-matched healthy controls participated. DNA was isolated from peripheral blood and a real-time PCR method was used to detect known SNPs in the PAI-1 gene. In addition, PAI-1 plasma levels were measured by using ELISA method. There was no significant difference between PAI-1 gene polymorphisms of KS patients and controls (p > .05). The significant difference was observed in PAI-1 plasma levels between two groups (high PAI-1 plasma level in KS patients compared to controls). The patients’ group mean was 55.13 and control group mean in PAI-1 level was 29.89 ng/ml (p = .020). Clinical features related to thromboembolism especially varicose veins were detected in KS patients frequently (p = .04). These results suggest that thromboembolism related to clinical features is seen more frequently in cases with KS, but it may not be dependent only on the PAI-1 gene polymorphism structure.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder caused by genetic, environmental and immunological factors. It is known that neural development processes are affected by immune func...

Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb–spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb deletion in the 17q11.2-17q12 chromosome region. Materials and methods: Physical examination of the case was performed. Karyotype and microarray analyses were performed for the case and the parents. Results: Physical examination revealed mild dysmorphic features such as high and forehead, full cheeks, slightly depressed nasal bridge and arched eyebrow. Chromosomal analysis of the patient revealed 46, XX, del(17)(q12) karyotype, and parents’ karyotype were normal. In the microarray analysis of patient, 1.6 megabases deletion was detected in the 17q12 region [arr(hg19) 17q12 (34,611,352–36,248,918) ×1]. The microarray analysis of the mother was normal. The father’s microarray showed 473 kilobases duplication in the 11p11.12 region. Conclusion: Although 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions.