Possible influence of menstrual cycle on lymphocyte X chromosome mosaicism.

PURPOSE: Estrogens are known to selectively influence cell proliferation. Physiological variations of blood hormone concentration might play a role in regulating the level of X chromosome aneuploidy. In this study we observed the percentages of X aneuploid cells in standard lymphocyte cultures from blood samples obtained in relation to the menstrual cycle, noting whether collection occurred during either the follicular or the luteal phase. METHODS: A study consisting of 28 women with X mosaicism and recurrent pregnancy loss, and 28 age-matched healthy controls. Cytogenetic studies were carried out on peripheral blood samples according to standard procedures. RESULTS: A significant difference in the percentage of X aneuploidy was found in blood samples obtained during different phases of the menstrual cycle. In the case group, the mean value of aneuploid cells in the follicular and luteal phase samples was 10.0 and 6.3 % respectively and in the control group, it was 2.8 and 1.0 % (P < 0.0001). The difference in the case group varied between 0 and 8 % (3.6 ± 2.1 %) and in the control group between 0 and 4 % (1.7 ± 1.1 %). The specificity for detecting true X mosaicism was 0.875. We estimate that the initial diagnosis of X mosaicism could be correct in 68 % of patients with recurrent pregnancy loss. CONCLUSIONS: This observational study establishes that the time of blood sampling in relation to the menstrual cycle can influence lymphocyte X chromosome mosaicism. The results, further proven by additional controlled studies, would have practical implications for genetic counselling and fertility treatment.

Overjet as a predictor of sagittal skeletal relationships.

Skeletal relationships in the sagittal plane do not always correspond with dental relationships. The aim of this study was to determine in which type of malocclusion the correlation between overjet and skeletal sagittal parameters assessed by lateral cephalogram analysis is the highest. The extent to which overjet can predict skeletal relationships in the sagittal plane was also assessed. Eighty-three subjects fulfilled the inclusion criteria (40 males and 43 females, mean age 16.3 +/- 4.3 years). Overjet was measured on study casts and sagittal skeletal relationships were analysed on lateral cephalograms. ANB angle, Wits appraisal, and convexity at point A were determined. Mean values and standard deviations of measured parameters were calculated for Class I, Class II division 1, and Class III malocclusion subjects. Correlation between overjet measured on study casts and sagittal skeletal parameters measured on lateral cephalogram was calculated. Overjet as a predictor of skeletal relationships was assessed by means of linear regression analysis. A statistically significant positive correlation (P < 0.01) was found between the values of overjet and ANB (r = 0.690), overjet and Wits appraisal (r = 0.750), and overjet and convexity at point A (r = 0.608) when assessing the whole sample. When linear regression between overjet and cephalometric parameters was assessed separately in Class I, Class II division 1, and Class III malocclusion subjects, the percentage of variability was statistically significant in just four pairs. The findings show that overjet is a good predictor of sagittal relationship only in subjects with a Class II division 1 malocclusion.