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Cytogenetics (Cytogenetic Disorders (presentation, frequency, cytogenetic…
Cytogenetics
Cytogenetic Disorders
presentation
frequency
cytogenetic defect
diagnostic techniques
management
examples include:
aneuploidy
translocations
chromosome breakage syndromes
microdeletion/microduplication syndromes
Cytogenetic Techniques
indications for
limitations of
type of chromosome problem identified by
Recognized Chromosome Variants of No Phenotypic Consequence
e.g. 1qh+
implications for genetic counselling
Mechanisms That Lead to Numerical and Structural Chromosome Abnormalities
Standard Cytogenetic Nomenclature