Chromosome disorders: An introduction

Wed, 17 Jan 2024 05:32:08 +0000

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.