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