Lecture 45 Flashcards
What types of mutations can karotyping detect?
Can detect deletions, duplications, inversions, translocations, other abnormalities
only large differences can be detected
What does a metracentric chromosome look like?
the centromere is in the middle
what does a submetracentric chromosome look like?
the centomere is not in the middle
what does an acrocentric chromosome look like?
presence of satellites
What can FISH probes detect?
Numerical chromosome aberrations
- Deletions
- Translocations
- Gene amplification
FISH probes are large
What is chromosome painting useful for?
can show translocation and rearrangements
very useful in cancer genetics
each chromosome is a diff color
What a the three types of euploidy?
- diploidy
- triploidy
- tetraploidy
diploidy?
normal
triploidy?
not compatible with life
tetraploidy?
lethal
What are the two types of aneuploidy?
- monosomy
2. trisomy
monosomy?
not compatible with life
exception: monosomy of X chromosome
trisomy?
one additional chromosome (47)
Trisomy 21?
down syndrome
symptoms of down syndrome?
intellectual disability, short stature, heart defects, depressed nasal bridge
