SEMINAR 9: Chromosomal aberrations (Chapter 7)

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SEMINAR 9:
Chromosomal aberrations
(Chapter 7)
How do we define chromosomal aberration in medical genetics?
ANY CHANGE IN CHROMOSOME STRUCTURE RUTINELY SEEN BY LIGHT MICROSCOPY – 4 Mb
How are chromosomal aberrations subdivided?
CHANGE IN CHROMOSOME NUMBER VS CHANGE IN CHROMOSOME STRUCTURE
POLYPLOIDY
ANEUPLOIDY
TRANSLOCATIONS
DELETIONS
DUPLICATIONS
INVERSIONS
RING CHROMOSOMES
ISO-CHROMOSOMES
MARKER CHROMOSOMES
‘OTHER’ CHROMOSOMAL ABERRATIONS
MOSAICISM
CHIMAERA
UNIPARENTAL DISOMY AND ISODISOMY
MITOSIS
VS
MEIOSIS
Which techniques are most commonly used in medical genetics?
CYTOGENETIC METHODS
DNA-BASED METHODS
KARYOTYPING
FISH
QF-PCR
MLPA
aCGH
Down syndrome
Patau syndrome
Edward’s syndrome
Turner syndrome
Useful links:
Cell cycle:
https://www.youtube.com/watch?v=gTZ_vj-HdzM
Mitosis and meiosis:
https://www.youtube.com/watch?v=zGVBAHAsjJM
FISH technique:
https://www.youtube.com/watch?v=nm8Ai1CI9Is
Basic molecular biology course (useful for refreshing your knowledge):
https://www.youtube.com/watch?v=TnpCMgtDPgk&list=PL7647D2E28A51087
B
(OPTIONAL & VERY INSPIRING: importance of public understanding of
genetics):
https://www.youtube.com/watch?v=FxXmlw9yWg0

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