Cytogenetic findings at Down syndrome and their correlation with clinical findings

  • Amra Ćatović Centre for Human Genetics, Medical Faculty, University in Sarajevo
  • Sulejman Kendić Private Clinic “MEDICA” Bihać, Gynecology Ambulance
Keywords: Down syndrome, cytogenetics findings, clinical findings

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. 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.

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Cytogenetic findings at Down syndrome and their correlation with clinical findings
Published
2005-11-20
How to Cite
1.
Ćatović A, Kendić S. Cytogenetic findings at Down syndrome and their correlation with clinical findings. Bosn J of Basic Med Sci [Internet]. 2005Nov.20 [cited 2020Aug.10];5(4):61-7. Available from: http://www.bjbms.org/ojs/index.php/bjbms/article/view/3236
Section
Short Communication