Variation in chromosome structure and number - Deletions and duplications
20 important questions on Variation in chromosome structure and number - Deletions and duplications
Which 2 types of deletions are there?
- Interstitial deletion: a chromosome has broken into two places (the central fragment is lost and the two outer pieces reattach to each other).
An example of an abnormal crossover event is a misaligned crossover between two identical repetitive sequences that are on a different site on the chromosome. How is this kind of abnormal crossover called?
The majority of gene duplications have no phenotypic effect. However, over the course of many generations, to what can they lead?
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What is copy number variation (CNV)?
What can cause a CNV?
What is a segmental duplication?
What is comparative genomic hybridization (CGH)?
Which 2 types of inversions are there?
- Paracentric inversion: the centromere lies outside the inverted region of the chromosome.
Most of the time, an inversion does not have phenotypic consequences. In which 2 situation does the inversion have phenotypic consequences?
- When a gene on a chromosome is repositioned in a way that alters its normal level of expression (for example, when its new position is near a heterochromatin region, it is much less expressed than it has to). This is called 'position effect'.
Inversion rarely has phenotypic consequences. However, people with inversion have a high probability of ... ?
What happens when crossover occurs within the inversion loop?
When a dicentric chromosome and an acentric chromosome is formed at crossing over, what is the final result?
What is a reactive end of a chromosome?
What are two ways a translocation can occur?
- Sometimes crossover occurs between nonhomologous chromosomes, which results in a reciprocal translocation.
What are balanced translocations?
What are unbalanced translocations?
Of what is familial Down syndrome an example?
What is Robertsonian translocation?
What is a translation cross?
In which three ways can the chromosomes within the translocation cross be segregated?
- Adjacent-1-segregation: each daughter cell gets a chromosome with a translocation;
- Adjacent-2-segregation: an abnormal, rare segregation in which one daughter cell gets both copies of the centromere on chromosome 1 and the other gets both copies of the centromere on chromosome 2.
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