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■ Figure 8-22 CGH analysis of four chromosomes from a cancer cell line. Amplified or deleted areas can be observed where the test and reference signals are not equal. The vertical lines on the diagram at right represent results from six different chromosomal spreads analyzed for excess reference signal (left of idiogram) or test signal (right of idiogram).

1. During interphase FISH analysis of a normal specimen for the t(9;22) translocation, one nucleus was observed with two normal signals (one red for chromosome 22 and one green for chromosome 9) and one composite red/green signal. Five hundred other nuclei were normal. What is one explanation for this observation?

2. Is 47; XYY a normal karyotype?

3. What are the genetic abnormalities of the following genotypes?

4. A chromosome with a centromere not located in the middle of the chromosome but not completely at the end, where one arm of the chromosome is longer than the other arm, is called:

a. metacentric b. acrocentric c. paracentric d. telocentric

5. A small portion of chromosome 2 has been found on the end of chromosome 15, and a small portion of chromosome 15 has been found on the end of chromosome 2. This mutation is called a:

a. reciprocal translocation b. inversion c. deletion d. robertsonian translocation

6. Phytohemagglutinin is added to a cell culture when preparing cells for karyotyping. The function of the phytohemagglutinin is to:

a. arrest the cell in metaphase b. spread out the chromosomes c. fix the chromosomes on the slide d. stimulate mitosis in the cells

7. A CEP probe is use to visualize chromosome 21. Three fluorescent signals are observed in the patient's cells when stained with this probe. These results would be interpreted as consistent with:

a. a normal karyotype b. Down's syndrome c. Klinefelter's syndrome d. technical error

8. Cells were harvested from a patient's blood, cultured to obtain chromosomes in metaphase, fixed onto a slide, treated with trypsin, and then stained with Giemsa. The resulting banding pattern is called:

a. G banding b. Q banding c. R banding d. C banding

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Lela Buckingham

Gene Mutations

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