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Appendix 5

Analyzing Karyotypes
Process and Procedure
1. Read the following paragraphs about karyotypes.

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To produce a karyotype, chromosomes from a single cell are stained, photographed, and
enlarged. The images of the individual chromosomes are cut out and arranged in a pattern
showing pairs of numbered chromosomes and the pair of sex chromosomes. In humans, a

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normal karyotype shows 22 pairs of numbered chromosomes and a single pair of sex
chromosomes (XX or XY).
Unusual numbers of chromosomes in a karyotype are associated with genetic disorders. One

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of the most common genetic disorders caused by an extra copy of a chromosome is Downs
syndrome. This disorder results when a child is born having three copies of chromosome 21.
2. Study the karyotype in Figure A5.1 of a normal male and in Figure A5.2, of a male with Downs

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syndrome. Locate and note the three copies of chromosome 21 in Figure A5.2.

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D Figure A5.1 A normal male

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Figure A5.2 A male with Down syndrome

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People with Downs syndrome display a number of symptoms including limited mental abilities, short stature,
heart irregularities, and characteristic facial features. The severity of these symptoms varies among people with
Downs syndrome.

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3. Look at Figure A5.3, which is a karyotype of a normal female, and Figure A5.4, which is a
karyotype of a female with Turners syndrome, and answer the following question.
a. Analyze the karyotypes in Figure A5.3 and A5.4 to determine the abnormality present in

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the Turners syndrome karyotype. What did you discover?

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Figure A5.3 A normal female

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Figure A5.4 A female with Turner syndrome

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Females with Turners syndrome are of short stature, sexually underdeveloped, and infertile.

4. After considering all 4 figures, answer the analysis questions below.

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Analysis Questions
Consider each of the following questions and record your answer in your student notebook.
1. How can human karyotypes be used to distinguish between males and females?

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2. How can karyotypes be used to detect genetic disorders?
3. Can a karyotype be used to diagnose a genetic disorder caused by a mutation in a single gene?
Why or why not?

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