Question 1

Following a successful bone marrow transplant as treatment for a hematopoietic disorder,what is the term used if the recipient's cells have a normal karyotype?

Accepted Answer

Chimerism refers to the coexistence of two genetically distinct cell populations in an individual. In the context of a bone marrow transplant, if the recipient's cells have a normal karyotype, it means that the transplanted cells have successfully engrafted and replaced the recipient's abnormal cells. This results in a state of chimerism, where the recipient has a mixture of their own cells and the transplanted cells with normal karyotypes. Partial engraftment would refer to a situation where the transplanted cells do not fully replace the recipient's cells. Mosaic refers to a situation where an individual has cells with different genetic makeup in different parts of their body. Aneuploid refers to a condition where a cell has an abnormal number of chromosomes.

Question 2

Which of the following chromosomal aberrations is associated with Burkitt lymphoma?

Accepted Answer

Burkitt lymphoma is associated with t(8;22) (q24.1;q11.2), which results in the MYC gene being translocated to the IgH locus. The other options are not associated with Burkitt lymphoma.

Question 3

Monosomy is an example of:

Accepted Answer

Monosomy is a type of aneuploidy, which refers to an abnormal number of chromosomes due to the loss or gain of a chromosome in a cell during cell division. Monosomy occurs when one chromosome is missing, resulting in a total number of 45 chromosomes instead of the typical 46. Polyploidy refers to an increase in the number of chromosome sets (e.g. triploidy - 69 chromosomes) and is not applicable to monosomy. Nondisjunction refers to the failure of chromosomes to separate properly during cell division and can lead to both aneuploidy and polyploidy, but it is not specific to monosomy. Anaphase lag refers to a specific type of nondisjunction where one daughter cell receives an incomplete set of chromosomes due to delayed movement of a chromosome during cell division and is not applicable to monosomy.

Question 4

The harvest procedure for chromosomal banding is accomplished by first activating the cells into mitosis.The active cells are stopped in metaphase by the addition and incubation of agents capable of disrupting the spindle apparatus.The swelling of the nucleated cells followed by fixation results in a preparation of final cell suspension on a slide,which is evaluated for quality.If the cells' quality is not optimum,what must be done?

Accepted Answer

If the cells' quality is not optimum, the preparation can be concentrated or diluted to improve the quality. Starting over with inactivation of the cells is unnecessary and time-consuming. Ageing the preparation overnight by heating or staining the preparation will not improve the quality of the cells.

Question 5

FISH is a molecular technique that can provide important clinical information that conventional cytogenetic analysis might not be able to provide.In CML,what can FISH identify that conventional cytogenetics cannot?

Accepted Answer

FISH can identify cryptic translocations, which are translocations that cannot be detected by conventional cytogenetics.

Question 6

A cytogenetic analysis is performed,and the result is inv (7) (
q21q32).Name the structural aberration,and explain how it was formed.

Accepted Answer

The answer of A cytogenetic analysis is performed,and the result...

Question 7

A patient is receiving treatment for Hodgkin lymphoma.Six weeks after cessation of the treatment,a cytogenetic analysis is performed.A structural aberration is found.Name the most probable aberration(s),and explain how these may occur..

Accepted Answer

The answer of A patient is receiving treatment for Hodgkin...

Question 8

A karyotype is a representation of:

Accepted Answer

A karyotype is a visual representation of the grouping and organization of an organism's chromosomes, usually displayed as a chart or diagram. It is used to identify and diagnose chromosomal disorders and abnormalities in individuals. It does not represent the molecular structure or double-helix structure of DNA, nor does it reflect the cell's immunophenotype.

Question 9

A 3-year-old girl is confirmed to have ALL by immunophenotyping.She is positive for the CALLA antigen.Cytogenetic analysis results indicate the presence of the Philadelphia chromosome.Which of the following applies to her?

Accepted Answer

The presence of the Philadelphia chromosome in ALL is associated with a poor prognosis. The CALLA antigen is commonly expressed in ALL and does not provide prognostic information. While tyrosine kinase inhibitors may be used in treating specific leukemias, their effectiveness in this case is not mentioned. An atypical presentation is not supported by the given information.

Question 10

Describe the steps involved in cytogenetic harvesting and banding,and explain the purpose of each.

Accepted Answer

The answer of Describe the steps involved in cytogenetic harvesting...

Question 11

Discuss the impact of FISH technology in hematolymphoid disorders and bone marrow transplant recipients.

Accepted Answer

The answer of Discuss the impact of FISH technology in...

Question 12

The presence of a chimerism after a bone marrow transplant indicates:

Accepted Answer

Chimerism is the presence of both the recipient and donor cells in a transplant recipient. A partial engraftment, where some of the recipient's cells are replaced by donor cells, will result in chimerism. A complete engraftment, where all the recipient's cells are replaced by donor cells, will also result in chimerism. Therefore, the presence of chimerism does not necessarily indicate a rejected transplant or a failed transplant, but rather indicates that the engraftment is at least partial, if not complete. So, the best choice is B.

Question 13

List at least five indications for performing FISH analysis in patients suspected of having a hematolymphoid disorder.

Accepted Answer

The answer of List at least five indications for performing...

Question 14

The patient who has the most favorable prognosis with acute lymphoblastic leukemia might have hyperdiploid karyotypes with a chromosome count ranging from 54-65 with what concurrence?

Accepted Answer

Patients with hyperdiploid karyotypes with trisomies of chromosomes 4, 10, and 17 have been found to have a more favorable prognosis with acute lymphoblastic leukemia. Deletions or translocations involving these chromosomes would not confer a better prognosis. Gene translocation at 17q12 does not give enough information to determine prognosis.

Question 15

What is the composition of the nucleotides in the chromosome structure?

Accepted Answer

Nucleotides in chromosome structure contain a sugar (either ribose or deoxyribose), a phosphate group, and a nitrogenous base (adenine, thymine, guanine, or cytosine). Uracil is only found in RNA, not in DNA. Pyrimidine is a type of nitrogenous base, not a specific base.

Quiz 41: Chromosome Analysis of Hematopoietic and Lymphoid Disorders