Special Studies

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Dr. Osama K Zaki                    

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SPECIAL  CYTOGENETIC STUDIES 

 Some genetic disorders require special studies to reveal chromosome abnormalities. In such cases, routine cytogenetic study is usually normal. The abnormality is best detected through a special technique that gives a clearer view of chromosomes or challenges the specific chromosome disorder. The following are example of those disorders:

Examples

bulletMicro-chromosomal disorders (micro-deletions, translocations, etc..) 
bulletFragile-X syndrome
bulletChromosome breakage syndromes (Fanconi anemia, Ataxia telangiectasia etc..)
bulletSomatic mosaicism.
bulletFluorescent In Situ Hybridization 

 

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