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Chromosomal Structural Abnormalities & Chromosomal Studies
N/A
28
Biology
Undergraduate 4
06/30/2013

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Term
This refers to the loss of a piece of a chromosome
Definition
Deletion
Term
Where do deletions occur the most?
Definition
In crossing over of meiosis
Term
This results in a missing gene due to a piece of the chromosome missing
Definition
Deletion
Term
What two things can be used to diagnose a deletion?
Definition

1. FISH

2. Karyogram

Term
[image]
Definition
The (-) are genes that are located on a recessive allele, while the (+) are genes on a dominant allele. In the good wildtype chromosome, it is homozygous dominant so it does not express the disorder however the mutant homozygous recessive chromosome does express the disorder. Normally when these two pair up, the children would be carriers but would not express the abnormality, however after a deletion occurs in the wildtype chromosome on one of the alleles, some of the dominant genes are removed so after genetic recombination 50% of the children will be carriers and the other 50% will express some of the abnormal genes (the ones that corresponds to the genes that were deleted)
Term
True or false, unequal crossing over can cause deletions & duplications
Definition
True
Term
This is the term given when there is an extra portion on a allele
Definition
Triplication
Term
This is a duplication of a section of a chromosome, and is sometimes refered to as a partial trisomy
Definition
A duplication
Term
This is a chromosome in ring form without the telomeres
Definition
A ring chromosome
Term
True or false, ring chromosomes are not problematic
Definition
False, ring chromosomes can become problematic when the cell divides and can cause problems for the individual
Term
This is an abnormal process where the exchanging of genetic material in a somatic cell occurs between 2 non homologous chromosomes
Definition
Translocation
Term
True or false, in balanced (reciprocal) translocations the same amount of genetic material is not transferred
Definition
False, it is balanced so the same amount is transferred
Term
Is the same amount of genetic material passed normally during translocations?
Definition
No
Term
Translocations that occur between chromosomes 9 and 22 produces a malignancy called what?
Definition
Chronic Myolate Leukemia
Term
This is a common form of chromosomal rearrangement that in humans occurs in the five acrocentric chromosome pairs (13, 14, 15, 21, 22)
Definition
Robertsonian Translocation
Term
This is a type of nonreciprocal translocation where two nonhomologous acrocentric chromosomes (chromosomes that are not members of the same pair and have centromeres located at there ends) break at their centromeres
Definition
Robertsonian Translocation
Term
True or false, an inversion consists of three breaks in one chromosome
Definition
False, an inversion consists of two breaks in one chromosome not three
Term
This is the term given to an inversion that occurs around the center of a chromosome
Definition
Pericentric inversion
Term
This is the term given to inversions that occur away from the center of a chromosome
Definition
Paracentric inversion
Term
This can reveal chromosome deletions, translocation or other abnormalities
Definition
A karyotype
Term
This is a powerful and versatile tool for the detection and localisation of nucleic acids in fixed materials such as cells
Definition
Fluorescent In Situ Hybridization (FISH)
Term
True or false, FISH can diagnose microdeletions
Definition
True
Term
True or false, karyotyping can be used to diagnose microdeletions
Definition
False
Term
This test is specific, in it you are looking for something that you know may or may not be present
Definition
FISH
Term
Which test is more difficult to interpret FISH or a Karyogram?
Definition
A Karyogram
Term
Which test is easier to perform FISH or a Karyogram?
Definition
FISH
Term
Which test takes a longer time to complete, FISH or a karyogram?
Definition
A karyogram
Term
What are some disadvantages of FISH?
Definition

1. FISH can only analyze or the region of the genome that corresponds to the probe

2. There is a limited availability of probes

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