Download Genetic Disorders

Genetic Disorders
Know the Pedigree symbols that are on the handout.
Know combinations from the pedigree packet.
Autosomal Disorders
1. What chromosomal disorder is caused by a piece being lost?
2. What chromosomal disorder is caused by an extra piece of chromosome being added?
3. What chromosomal disorder is caused by a piece breaking off & reattaching in the opposite
order?
4. What chromosomal disorder is caused by part of a chromosome breaking off and attaching to
another chromosome?
5. What chromosomal disorder is caused when a chromosome does not separate?
6. In what phases can nondisjunction occur and what is the result for the gametes?
  7. Make a dihybrid cross for the following: TtRr TTrr (T=tall; t=short; R=red; & r=white)
8. From the above dihybrid, how many tall red flowers were produced?
9. What chromosomes are involved with autosomal conditions?
10. A hypothetical disorder's location is written as 13q31.5. Answer the following questions using
this information.
 What chromosome is the disorder located?

Is the disorder above or below the centromere?

If it said "p" instead of "q", would it be above or below the centromere?

31.5 represents what?
11. Answer the following questions for Down's Syndrome:

List the 4 main characteristics-

It affects what 2 systems the most?

Which chromosome does it affect and what is the cause?
12. Answer the following questions for Cystic Fibrosis:
 What 2 systems does it affect?

Which chromosome and what type of autosomal disorder is it?
13. Answer the following questions for Sickle Cell Anemia:
 Describe the condition
What type of autosomal disorder and which chromosome?
14. Answer the following questions for Huntington's Disease:
 Describe the condition
What type of autosomal disorder-
15. If an offspring has a autosomal dominant disorder, what does that tell you about their parent?
16. If both parents are heterozygous with an autosomal dominant disorder (they have the
disorder), what is the likeliness for their offspring to have the disorder? (D=disorder & d=no
disorder)
17. What is the likeliness for an offspring to get an autosomal recessive disorder if both parents
have the disorder? (d=disorder & D=no disorder)
18. If both parents are carriers for an autosomal recessive disorder (they do not demonstrate the
condition), what is the likeliness of the offspring getting the condition. What about the likeliness
of being a carrier? (d=disorder & D=no disorder)
19. How can an autosomal recessive condition be hidden for generations?
Sex-linked Conditions
20. What chromsome number do sex-linked chromosomes occur on?
21. Which chromosome do most sex-linked conditions occur and why?
  22. What type of chromosome does mothers give their offspring? Their fathers?
  23. Who determines the offspring's sex?
24. Answer the following about Colorblindness:
 Description
Who is most commonly affected-

Type of sex-linked disorder-
25. Answer the following about Hemophilia:
 Description
Who is most commonly affected-

Type of sex-linked disorder-
26. Answer the following about Turner Syndrome:
 Description
Who is most commonly affected & chromosome combination-

What type of sex-linked disorder-
27. Answer the following about Klinefelter's Syndrome:
 Description
What type of sex-linked disorder & chromosome combination-
28. Who is more affected by X-linked recessive disorders and why?


29. If a mother has a disorder, what is the likeliness her son will have it too?
30. If a daughter has a disorder, which parent(s) contributed the chromosome?
Genetic Screening
31. What are the 4 types of genetic screening and describe each.
 
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
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
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32. What is the benefit of pedigree charts?
33. What type of allele can a carrier have but not show the condition?
34. What type of chromosomal disorder can males not be a recessive carrier for?