Cytogenetic findings at Down syndrome and their correlation with clinical findings

Authors

  • Amra Ćatović Centre for Human Genetics, Medical Faculty, University in Sarajevo
  • Sulejman Kendić Private Clinic “MEDICA” Bihać, Gynecology Ambulance

DOI:

https://doi.org/10.17305/bjbms.2005.3236

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.

Downloads

Download data is not yet available.
Cytogenetic findings at Down syndrome and their correlation with clinical findings

Downloads

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 2022May27];5(4):61-7. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/3236

Issue

Section

Short Communication