Chromosome disorders: An introduction

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18245 days ago, 1060 views
A brief description of the mechanisms, types and assessment of chromosomal analyses. Techniques such as standard cytogenetic testing, FISH and array methods are discussed. Indications for testing in prenatal, neonatal and adult periods are also discussed. Deletions, translocations, inversions etc are described, as are mosaicism and aneuploidy.

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