Clinical Cytogenetics

Question 1

A common finding in cytogenetics is childhood B-cell acute lymphoblastic leukemia (ALL) which is caused by ______________, revealed by chromosome and FISH analysis

Answer 1

High hyper-diploidy

Question 2

T (9;22) is basis for a diagnosis for _____________ which can be treated with tyrosine kinase inhibitors.

Answer 2

Chronic myelogenous leukemia (CML)

Question 3

T(15;17) is basis for a diagnosis for ____________, which can be treated with retinoid acid.

Answer 3

Specific acute pro myeloid leukemia (PML)

Question 4

In FISH analysis, a centromeric probe (CEN) is used to detect __________

Answer 4

Enumeration - Leukemia

Question 5

In FISH analysis, a locus specific probe (LSI) is used to detect __________

Answer 5

Deletion - Leukemia (p53)

Question 6

In FISH analysis, a fusion probe (F) is used to detect __________

Answer 6

Translocation - Leukemia; BCR, ABL, PML, RARA

Question 7

CMA (chromosomal micro array) can detect genomic ______________ but not ____________

Answer 7

Deletion or duplication; translocations

Question 8

Each normal individual carries about _________ copy number variants.

Answer 8

25

Question 9

If a deletion or duplication is detected by CMA, what is the next step in genetic testing?

Answer 9

Consult the database of genomic variants (DGV)

Question 10

In FISH, gene-specific or locus-specific probes can be used to detect the presence or absence or location or a particular gene, both in ___________ and in _____________

Answer 10

Metaphase chromosomes; interphase cells

Question 11

What leukemia is associated with a PML/RARA translocation?

Answer 11

Acute Promyelocytic leukemia (APL)