الفهرس | Only 14 pages are availabe for public view |
Abstract Background: Cytogenetic analysis is an essential component in the diagnosis and evaluation of children with various congenital abnormalities, dysmorphicfeatures, developmental delay and / or intellectual disability.Objective: To describe the prevalence of different genetic syndromes and other diseases where chromosomal analysis help in their diagnosis and determine their correlation to mother s age ,consanguinity and presenting symptoms inEgyptian children and adolescents in Genetics unit, Pediatric hospital, Cairo University. Methods: Retrospective study includes all children who are suspected clinically to have chromosomal abnormalities in genetics clinic & asked to do karyotyping incytogenetics lab during the period fromJanuary 2013 to December 2014. Results: Of the 1072 cases 617 were females (57.5%) and 455 were males (42.5%). The prevalence of chromosomal abnormalities was 317 cases (29.6%) which is in agreement with various previous studies |