Down syndrome is a genetic state characterized by trisomy of chromosome 21. In the retrospective study for 12 years period (1991-2002) we have conducted correlation between cytogenetics analyses and clinical findings in our centre at 96 male and 83 female patients. Down syndrome was confirmed by cytogenetics analyses in 84 (87.5%) male patients and excluded in 12 (12.5%) male patients. Down syndrome was confirmed by cytogenetics analyses in 71 (85.5%) female patients and excluded in 12 (14.5%) female patients. Most common karyotype is free trisomy found in 139 (89.7%) examinees, than follows translocation form determined in 9 (5.8%), and mosaicism determined in 7 (4.5%) examinees. Our results indicate that cytogenetics analyses are necessary to confirm diagnosis of Down syndrome.
CITATION STYLE
Catović, A., & Kendić, S. (2005). Cytogenetic findings at Down syndrome and their correlation with clinical findings. Bosnian Journal of Basic Medical Sciences / Udruzenje Basicnih Mediciniskih Znanosti = Association of Basic Medical Sciences, 5(4), 61–67. https://doi.org/10.17305/bjbms.2005.3236
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