1. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Recognising patterns of inheritance quiz

2. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre This quiz was designed to help in identifying the different patterns of inheritance by analysing how people with a condition are related to each other. In practice, additional information may be available: – For instance, the diagnosis itself may confirm a mode of inheritance. Then, the pedigree can be inspected to see if the pattern fits with that expected. – Some combinations of clinical features may suggest that the condition is due to an anomaly of chromosomes.

3. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Introduction There are 10 genetic family histories (illustrated as pedigrees) in this quiz. The first slide for each family gives the pedigree and invites you to choose the most likely mode of inheritance from a list of 4 or 5 alternatives. The second slide for each family gives the answer we think most likely and gives explanations in the notes pane as to why some of the other alternatives are not appropriate. In the explanations, we often use the term “affected people”. Patients much prefer the term “people with the condition” but we use the term “affected” here as a shorthand form to save space.

4. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Additional resources Animated presentations explaining the single gene modes of inheritance can be found here: http://www.geneticseducation.nhs.uk/for- healthcare-educators/presentations http://www.geneticseducation.nhs.uk/for- healthcare-educators/presentations Video animations explaining single gene modes of inheritance can be found via the following page: http://www.geneticseducation.nhs.uk/mededu/mo des-of-inheritance/single-gene-conditions http://www.geneticseducation.nhs.uk/mededu/mo des-of-inheritance/single-gene-conditions

5. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Some reminders before you begin The internationally agreed symbols for males and females are squares and circles respectively. A symbol is coloured in if the person has a condition. Small triangles are miscarriages or spontaneous abortions. The sex chromosomes of males are XY; females have XX sex chromosomes. Mitochondria come from the egg and not the sperm.

6. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Questions to consider when looking at a pedigree Do males and females have the condition? Are there roughly equal numbers of males and females with the condition? Are there people in each generation with the condition? Do people with the condition have children with the condition? Do people without the condition have children with the condition?

7. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 1 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Chromosomal translocation b. Autosomal dominant c. X-linked dominant d. Mitochondrial e. Autosomal recessive

8. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 1 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Chromosomal translocation b. Autosomal dominant c. X-linked dominant d. Mitochondrial e. Autosomal recessive

9. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 2 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Y linked b. Autosomal recessive c. Autosomal dominant d. X-linked recessive e. X-linked dominant

10. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 2 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Y linked b. Autosomal recessive c. Autosomal dominant d. X-linked recessive e. X-linked dominant

11. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 3 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? The affected person has a metabolic disorder caused by an enzyme deficiency. The disorder causes learning disabilities, coarsening of the facial features and skeletal anomalies. a. Autosomal dominant b. Autosomal recessive c. X-linked recessive d. Multifactorial

12. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 3 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? The affected person has a metabolic disorder caused by an enzyme deficiency. The disorder causes learning disabilities, coarsening of the facial features and skeletal anomalies. a. Autosomal dominant b. Autosomal recessive c. X-linked recessive d. Multifactorial

13. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 4 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Reciprocal chromosomal translocation b. Autosomal dominant c. X-linked dominant d. Mitochondrial e. Autosomal recessive

14. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 4 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Reciprocal chromosomal translocation b. Autosomal dominant c. X-linked dominant d. Mitochondrial e. Autosomal recessive

15. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 5 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? Two people were born with spina bifida but are otherwise healthy. a. X-linked recessive b. Mitochondrial c. Autosomal dominant d. Multifactorial

16. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 5 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? Two people were born with spina bifida but are otherwise healthy. a. X-linked recessive b. Mitochondrial c. Autosomal dominant d. Multifactorial

17. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 6 The children with the condition in this family have multiple congenital anomalies and developmental delay. Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Reciprocal chromosomal translocation b. Autosomal dominant c. X-Linked recessive d. Mitochondrial e. Autosomal recessive

18. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 6 The children with the condition in this family have multiple congenital anomalies and developmental delay. Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Reciprocal chromosomal translocation b. Autosomal dominant c. X-Linked recessive d. Mitochondrial e. Autosomal recessive

19. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 7 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. X-linked dominant b. Autosomal dominant c. Multifactorial d. X-Linked recessive e. Reciprocal chromosomal translocation

20. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 7 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. X-linked dominant b. Autosomal dominant c. Multifactorial d. X-Linked recessive e. Reciprocal chromosomal translocation

21. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 8 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Autosomal dominant b. Autosomal recessive c. X-Linked recessive d. Y-Linked e. X-Linked dominant

22. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 8 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. Autosomal dominant b. Autosomal recessive c. X-Linked recessive d. Y-Linked e. X-Linked dominant

23. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 9 Which of the modes of inheritance is the most likely based on the pattern of people with the medical condition in this family? a. X-linked recessive b. Reciprocal chromosomal translocation c. Mitochondrial d. New mutation causing a dominant condition e. Autosomal recessive

24. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 9 Which of the modes of inheritance is the most likely based on the pattern of people with the medical condition in this family? a. X-linked recessive b. Reciprocal chromosomal translocation c. Mitochondrial d. New mutation causing a dominant condition e. Autosomal recessive

25. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 10 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. X-linked dominant b. Autosomal dominant c. X-linked recessive d. Mitochondrial e. Y-linked

26. Genetics and genomics for healthcare www.geneticseducation.nhs.uk © 2014 NHS National Genetics Education and Development Centre Family 10 Which of the modes of inheritance is the most likely based on the pattern of people with the condition in this family? a. X-linked dominant b. Autosomal dominant c. X-linked recessive d. Mitochondrial e. Y-linked