title: Cytogenetic findings at Down syndrome and their correlation with 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. 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.
authors.affiliation: Centre for Human Genetics, Medical Faculty, University in Sarajevo, Bosnia and Herzegovina.
authors.forename: Amra
authors.initials: A
authors.lastname: Catović
authors.forename: Sulejman
authors.initials: S
authors.lastname: Kendić
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000375:Aging / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002875:Chromosomes / Q000648:ultrastructure; D003582:Cytogenetics; D004268:DNA-Binding Proteins; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D005190:Family; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D009124:Muscle Proteins / Q000235:genetics; D012189:Retrospective Studies; D012727:Sex Characteristics
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins; C108612:RCAN1 protein, human