An Introduction on Medical Cytogenetics, Study notes of Medical Sciences

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e f ( AM UE CLINICAL CYTOGENETIC S —* gbnormalitics in the number Of Chromosomer * NUMERICAL and rion > PATHOLOGIES (e.g SYNOROMES) REPORTING GUIDELINES : Karyotyping | Karyotype designation within Me context Of dicase EXAMPLE + + Ho XX —» Chromosome cngiyeis revealed a normal female chomsome “Mple= + We XY—> Cromosome —anarysir re yeated a noma male chromosome coapleh —> also l00KS at PHENOTYPES | non doct a person affecied with the discase, WOULD \opK LiKe. —+ DIAGNOSIS is awo inciuced Pro-anaiytical, Analytical, Post - Ananya SCOPE : 4. Routine Koryotyping 2. Fluortscence in-situ Hybridization (FISH) & Genomig Microarray Andlysis C ema) L moving towards minute structural abnormalitier that cannot he directiy seen unatr the mierorcope Le rely on ONA sequencing , KARYOTYPING *MAIN GOAL’ get Cucquaest from a single cell for analysis. thould b¢ in their pean eondensed conformation for ier 10 b¢ isolated nicely. Le mut not qct chromating because, iney are Mot MiCClY eondensed thus, creating errors Of your park and algo \taving an maceucoty result.