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 2

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: Chromosome abnormalities: deletion and microdeletion syndromes

Options:

1. Wolf-Hirschhorn syndrome
2. Cri-du-chat syndrome
3. Williams syndrome
4. WAGR syndrome
5. Angelman syndrome
6. Prader-Willi syndrome
7. DiGeorge/Shprintzen syndrome

The children below all have a small chromosome deletion or microdeletion. Choose the most appropriate diagnosis from the options.

1

Scenario 1   A 3-year-old girl with mild learning difficulties who underwent surgery for repair of a cleft palate in infancy. On examination she is found to have a loud heart murmur. Choose... Wolf-Hirschhorn syndrome Cri-du-chat syndrome Williams syndrome WAGR syndrome Angelman syndrome Prader-Willi syndrome DiGeorge/Shprintzen syndrome The DiGeorge/Shprintzen syndrome is one of the most common causes of congenital cardiac defects such as Fallot's tetralogy and a ventricular septal defect. Most affected children show mild learning difficulties and many also have an overt or submucous cleft palate. Page 65.Incorrect. See Page 65.Your answer has been saved.

2

Scenario 2   A 2-year-old boy with a small head circumference (microcephaly) and unusual facial appearance, who shows severe developmental delay. At the age of 3 months he underwent surgical repair of a life-threatening congenital cardiac defect. Choose... Wolf-Hirschhorn syndrome Cri-du-chat syndrome Williams syndrome WAGR syndrome Angelman syndrome Prader-Willi syndrome DiGeorge/Shprintzen syndrome From the conditions listed, the differential diagnosis includes both Wolf-Hirschhorn syndrome and the Cri-du-chat syndrome. However, children with the Cri-du-chat syndrome do not usually have a particularly unusual facial appearance. See Page 63.Incorrect. See Page 63.Your answer has been saved.

3

Scenario 3   A 5-year-old boy with mild learning difficulties who has a friendly extrovert personality. On examination he has a loud systolic ejection murmur. Choose... Wolf-Hirschhorn syndrome Cri-du-chat syndrome Williams syndrome WAGR syndrome Angelman syndrome Prader-Willi syndrome DiGeorge/Shprintzen syndrome One of the most striking features of children and adults with Williams syndrome is their outgoing, engaging personality. Over 65% have either supravalvular aortic or pulmonary stenosis. See Page 64.Incorrect. See Page 64.Your answer has been saved.

4

Scenario 4   A newborn infant with a small head, loud heart murmur and a curious high pitched cry. Choose... Wolf-Hirschhorn syndrome Cri-du-chat syndrome Williams syndrome WAGR syndrome Angelman syndrome Prader-Willi syndrome DiGeorge/Shprintzen syndrome This is a difficult diagnosis to make in a newborn infant, but a high-pitched 'cat-like' cry should always raise suspicion of the Cri-du-chat syndrome in an infant who also has microcephaly or any other congenital abnormality. See Page 63.Incorrect. See Page 63.Your answer has been saved.

5

Scenario 5   A 4-year-old boy with mild learning difficulties who presents with a renal mass, absence of the left iris, and undescended testes. Choose... Wolf-Hirschhorn syndrome Cri-du-chat syndrome Williams syndrome WAGR syndrome Angelman syndrome Prader-Willi syndrome DiGeorge/Shprintzen syndrome The combination of absence of the iris (aniridia) and a renal mass is very suggestive of a chromosome 11p microdeletion. All babies with aniridia should undergo chromosome analysis, and those found to have a WAGR microdeletion should be evaluated regularly by ultrasound so that a Wilms tumour can be detected early. See Page 64.Incorrect. See Page 64.Your answer has been saved.