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Genetics
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Lectures
Introduction to Cytogenetics
Author
: Janet M. Cowan, Ph.D.
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About PDF Format
Introduction to Cytogenetics
Learning objectives
How to see chromosomes
Normal karyotype
Karyotype arrangement
Chromosome layout
Diagram
Nomenclature
Abbreviations
Abbreviations
Monosomy
Trisomy/triploidy
Examples 1
Typical newborn presentation
Baby G
In the lab
During the 48 hours
Fluorescence in situ hybridization (FISH)
FISH probes
Chromosome 21 FISH
Back to the blood in culture
How does trisomy 21 happen?
Frequency of trisomy
Typical routine adult presentation
In the lab
Mrs F’s karyotype
Translocations
Constitutional translocations
Robertsonian translocations
Robertsonian translocation
Translocations and meiosis
Mr and Mrs F
Karyotype of fetus
Unbalanced translocations
Summary 1
Summary 2
Summary 3
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