Open AccessCytogenetic findings at Down syndrome and their correlation with clinical findings
Author(s) -
Amra Ćatović,
Sulejman Kendić
Publication year - 2005
Publication title -
bosnian journal of basic medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.738
H-Index - 25
eISSN - 1840-4812
pISSN - 1512-8601
DOI - 10.17305/bjbms.2005.3236
Subject(s) - cytogenetics , trisomy , medicine , chromosomal translocation , karyotype , down syndrome , trisomy 8 , correlation , turner syndrome , chromosome , genetics , biology , psychiatry , gene , geometry , mathematics
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.