Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 1
   1. Question 1
   2. Question 2
2. Chapter 2
   1. Question 1
   2. Question 2
3. Chapter 3
   1. Question 1
   2. Question 2
4. Chapter 4
   1. Question 1
   2. Question 2
5. Chapter 5
   1. Question 1
   2. Question 2
6. Chapter 6
   1. Question 1
   2. Question 2
7. Chapter 7
   1. Question 1
   2. Question 2
8. Chapter 8
   1. Question 1
   2. Question 2
9. Chapter 9
   1. Question 1
   2. Question 2
10. Chapter 10
    1. Question 1
    2. Question 2
11. Chapter 11
    1. Question 1
    2. Question 2
12. Chapter 12
    1. Question 1
    2. Question 2
13. Chapter 13
    1. Question 1
    2. Question 2
14. Chapter 14
    1. Question 1
    2. Question 2

Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Patterns of inheritance

Options:

1. Autosomal dominant
2. Autosomal recessive
3. Mitochondrial
4. Multifactorial
5. X-linked dominant
6. X-linked recessive

In each of the following families several individuals are affected with a genetic disorder. Select the most likely mode of inheritance from the available options.

1

Scenario 1   A man with short stature, caused by an inherited form of rickets, has two affected daughters, but none of his four sons is affected. This man inherited his short stature from his mother. Choose... Autosomal dominant Autosomal recessive Mitochondrial Multifactorial X-linked dominant X-linked recessive The absence of male to male transmission, with the father transmitting his condition to all of his daughters, is suggestive of X-linked dominant inheritance. This man probably has an inherited form of Vitamin D resistant rickets. See Page 79 and 246.Incorrect. See Page 79 and 246.Your answer has been saved.

2

Scenario 2   A woman and her two brothers developed sudden onset visual loss in their late teens. This woman has two affected sons. None of the four sons and three daughters born to her brothers is affected. Choose... Autosomal dominant Autosomal recessive Mitochondrial Multifactorial X-linked dominant X-linked recessive Exclusive transmission through females with both sexes affected suggests mitochondrial inheritance. This history is consistent with a diagnosis of Leber's hereditary optic atrophy. Page 87 and 246.Incorrect. See Page 87 and 246.Your answer has been saved.

3

Scenario 3   A man and two of his three sons have short fingers (brachydactyly). Choose... Autosomal dominant Autosomal recessive Mitochondrial Multifactorial X-linked dominant X-linked recessive Two generation involvement with male to male transmission points strongly to autosomal dominant inheritance. In 1903 brachydactyly was the first human characteristic recognised to show autosomal dominant inheritance. See Pages 71, 175 and 246.Incorrect. See Page 71, 175 and 246.Your answer has been saved.

4

Scenario 4   A woman has two sons with a rare form of agammaglobulinaemia. The family history reveals that both she and her mother had brothers who died in early childhood as a result of chronic infection. Choose... Autosomal dominant Autosomal recessive Mitochondrial Multifactorial X-linked dominant X-linked recessive Transmission through the female line with only males affected is a feature of X-linked recessive inheritance. In theory transmission could also be mitochondrial. The diagnosis in this family is likely to be Bruton agammaglobulinaemia. See Page 77 and 246.Incorrect. See Page 77 and 246.Your answer has been saved.

5

Scenario 5   Parents, who are first cousins once removed, have two children with retinitis pigmentosa. No-one else in the family is or has ever been affected. Choose... Autosomal dominant Autosomal recessive Mitochondrial Multifactorial X-linked dominant X-linked recessive Involvement in only one generation and the history of parental consanguinity are factors strongly supportive of autosomal recessive inheritance. (First cousins once removed consist of an individual and his/her first cousin's child.) Page 73 and 246.Incorrect. See Page 73 and 246.Your answer has been saved.