Genetics

Question 1

Name three trisomy

Answer 1

Trisomy 19 - patau
Trisomy 18 - Edward
Trisomy 21 Down’s

Question 2

Describe the features of Patau syndrome

Answer 2

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 3

Describe the features of Edward’s syndrome

Answer 3

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

Question 4

How is fragile X inherited?

Answer 4

X linked dominant

Question 5

Describe fragile X

Answer 5

Learning difficulties
Macrocephaly
Long face
Large ears

Question 6

How is Noonan inherited?

Answer 6

Autosomal dominant

Question 7

Describe the features of Noonan syndrome

Answer 7

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 8

Is Pierre Robin Syndrome inherited?

Answer 8

No

Question 9

How does Pierre Robin syndrome present?

Answer 9

Micrognathia
Posterior displacement of the tongue
Cleft palate

Question 10

What are the three key features of Prader Willi?

Answer 10

Hypotonia
Hypogonadism
Obesity

Question 11

How does William’s syndrome present?

Answer 11

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hyperglycaemia
Supravalvular aortic stenosis

Question 12

What causes Cri du chat syndrome?

Answer 12

Chromosome 5p deletion

Question 13

Describe Cri du chat syndrome

Answer 13

Characteristic cry - larynx and neurological problems
Feeding difficulties/poor weight gain
Learning difficulties
Microcephaly/micrognathism
Hypertelorism

Question 14

What causes Turner’s?

Answer 14

Deletion of an X chromosome or a short arm one of the X chromosomes

Question 15

What are the features of Turner’s?

Answer 15

Short stature
Shield chest, wide spaced nipples
Webbed neck
Bicuspid aortic valve
Primary amenorrhoea
Cystic hygroma
High arched palate
Multiple naevi
Lymphoedema
Increased GnRH
Hypothyroidism
Horseshoe kidney