Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines.

We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed trisomy of chromosome 21 and 4% of the cells exhibited a normal female karyotype. Fluorescence in situ hybridization with a locus-specific probe for trisomy 21 and CEP X for monosomy X substantiated the results obtained from karyotyping. Our patient had 2 natural pregnancies, both of which produced children with Down syndrome. In our patient, as is the case with other women with infertility, the necessary routine is cytogenetic analysis (together with genetic counseling). The same analysis can be helpful in implementing assisted reproductive techniques.

A comparative analysis of the effectiveness of cytogenetic and molecular genetic methods in the detection of Down syndrome.

The goal of this study was to examine the effectiveness of 6 STR markers application (D21S1435, D21S11, D21S1270, D21S1411, D21S226 and IFNAR) in molecular genetic diagnostics of Down syndrome (DS) and to compare it with cytogenetic method. Testing was performed on 73 children, with the previously cytogenetically confirmed Down syndrome. DNA isolated from the buccal swab was used. Previously mentioned loci located on chromosome 21 were simultaneously amplified using quantitative fluorescence PCR (QF PCR). Using this method, 60 previously cytogenetically diagnosed DS with standard type of trisomy 21 were confirmed. Furthermore, six of eight children with mosaic type of DS were detected. Two false negative results for mosaic type of DS were obtained. Finally, five children with the translocation type of Down syndrome were also confirmed with this molecular test. In conclusion, molecular genetic analysis of STR loci is fast, cheap and simple method that could be used in detection of DS. Regarding possible false results detected for certain number of mosaic types, cytogenetic analysis should be used as a confirmatory test.

Association of mannose-binding lectin 2 (mbl2) gene heterogeneity and its serum concentration with osteoporosis in postmenopausal women.

The aim of the study was to detect prevalence of MBL2 exon 1 (codons 52, 54 and 57) genetic polymorphism in postmenopausal women in Bosnia and Herzegovina and its possible role as genetic risk factor for susceptibility to occurrence of osteoporosis in this study group. Also, we investigated association between MBL serum concentrations and osteoporosis in postmenopausal women. Genetic codons' variations were determined by PCR-RFLP and MBL in serum was measured by ELISA method in 75 postmenopausal women (37 with osteoporosis and 38 apparently healthy, non-osteoporotic women serving as a control). Serum MBL levels were not significantly different between osteoporosis and control group (492 (37-565.1) and 522.6 (477-559.4) ng/mL respectively, p=0.206). Genotype frequencies were not significantly different (p=0.997) between the studied groups of postmenopausal women. Genotype frequencies A/A, A/0 and 0/0 in osteoporosis group were 0.576; 0.405; 0.018 and in control group 0.562; 0.412; 0.026, respectively. Frequencies of A and 0 allele were 0.78 and 0.22 in osteoporosis and 0.77 and 0.23 in control group. The results do not suggest association of functional polymorphism of MBL2 gene and MBL serum concentration with osteoporosis in postmenopausal females.

The impact of Rituximab therapy on the chromosomes of patients with Rheumatoid arthritis.

The open prospective combined cytogenetic and clinical study investigated the impact of biological therapy Rituximab on number and structure of chromosomes in Rheumatoid arthritis patients. The purpose of this study was to investigate safety of Rituximab on chromosomes as well as cytotoxic therapy Methotrexate. A total of 8 seropositive Rheumatoid arthritis patients were analyzed for primary end point of eventual cytotoxic effect of Rituximab. Assessment was done before and 1 month later, actually 2 weeks after the administration of full course of Rituximab in infusion. Patients suffering from active Rheumatoid arthritis were randomly assigned according to established protocol to receive infusion of Rituximab in a full dose of 2.0 grams divided in a two doses of 1.0 gram on days 1 and 15. The lymphocytes from peripheral blood were cultured according to Moorhead method. The results obtained from this investigation showed that normal male and female karyogram was found after the full therapy of Rituximab. The results from this study, that was done on a rather small number of subjects, indicate that Rituximab does not express either clastogenic or aneugenic effects. But, co-finding of this study was that Methotrexate had a side effect on chromosomal aberration in one female RA patient, and after discontinuation of this treatment the normal karyogram was observed.