Cytogenetic findings at Down syndrome and their correlation with clinical findings.

4Citations
Citations of this article
19Readers
Mendeley users who have this article in their library.

Abstract

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.

Cite

CITATION STYLE

APA

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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free