Study Set Content:
The following are the mechanisms involved in structural aneuploidy, EXCEPT
HOMOLOGOUS RECOMBINATION
What form of aneuploidy is acquired through defective chromosome segregation in mitosis?
SOMATIC ANEUPLOIDY
This term refers to the pulverization of one or a few select chromosomes leading to aneuploidy.
CHROMOTHRIPSIS
56. Down syndrome, T13 and T18 are examples of which type of aneuploidy?
CONSTITUTIONAL ANEUPLOIDY
The mutation of this component of the spindle assembly checkpoint (SAC) gene is the cause of MVA. What is this? Abbreviation only.
BUB1B
56. A condition where cells will have alleles from 3 different grandparents is called:
HETEROTRISOMY
Traditionally, what is the basis for numerical and structural aberrations in chromosomes?
CONVENTIONAL CHROMOSOME BANDING ANALYSES
This term refers to the blocking of labeled repetitive DNA with an excess of unlabeled DNA enriched in repetitive sequences.
SUPPRESSION HYBRIDIZATION
The library of chromosome DNAs were derived from a cytological technique that sorts particles or cells based on physical and chemical (molecular size and shape) characteristics. What do you call this cytological procedure?
FLOW SORTING
The first generation of chromosome painting probes were based on what libraries?
CHROMOSOME-SPECIFIC PHAGE LIBRARIES
PCR-amplified flow-sorted chromosomal DNAs were probed using DNA primers containing a mix of nucleotide sequences that contain a number of different possible bases at certain base location, thus can detect a population of genes with similar sequences. What do you call this primer?
DEGENERATE PRIMERS
There are 2 types of next-generation chromosome painting probes. What are these? Use "AND"
CHROMOSOME FLOW SORTING AND MICRO-MANIPULATED DISSECTION
Name the 3 fluorochromes used in FISH. You may use the abbreviations only, if appropriate. Put a space and comma in between answers..
AMCA, FITC, RHODAMINE
These substances are photoreactive chemicals that can absorb energy via interaction of an orbital electron in the atom with a photon of light.
FLUOROCHROME
Why is it hard to track intrachromosomal aberrations such as inversions and deletions?
COLOR OF THE ABBERANT CHROMOSOMES REMAIN UNCHANGED
What is the incidence of chromosomal disorders per 1000 newborns?
SIX
Name the 2 approaches used to achieve the color karyotyping of chromosomes (Use the abbreviations only, separated by "AND").
M-FISH AND SKY
Based on G-banding analysis, der(5)t(5;12) was the result of the deletion of which arm of chromosome 5?
Q
What is the disorder that results from the unbalanced translocation between chromosomes 4 and 8?
WOLF-HIRSCHHORN SYNDROME
This term refers to the conservation of blocks of 2 chromosomes that are being compared to each other
SYNTENY
