Genetics

Question 1

Condition associated with mild-moderate learning difficulty, a long and narrow face, large ears, flexible fingers and large testicles

Answer 1

Fragile X (X linked dominant)

Question 2

Syndrome presenting as small jaw, low-set ears, rocker-bottom feet and overlapping fingers

Answer 2

Edwards syndrome (trisomy 18)

Question 3

Syndrome presenting with webbed neck, pectus excavatum, short stature and pulmonary stenosis

Answer 3

Noonans syndrome (autosomal dominant)

Question 4

Hypogonadism, hypotonia and obesity

Answer 4

Prader- Willi syndrome (spontaneous deletion on chromosome 5)

Question 5

Child with mild to moderate learning difficulty and a friendly, extroverted personality.

Answer 5

Williams syndrome

Question 6

Child with microcephaly, small eyes, cleft lip/palate, polydactyly and scalp lesions

Answer 6

Pataus syndrome (trisomy 13)

Patau = Polydactyly/ cleft Palate

Question 7

Women with Turners syndrome (45X) are at increased risk of what other endocrine abnormality

Answer 7

Hypothyroidism (often Hashimotos)

Question 8

Frontotemporal dementia is part of a clinical spectrum and genetically associated with which other neurological disorder

Answer 8

MND

Question 9

What is the characteristic mode of inheritance of FAP

Familial autosomal polyposis

Answer 9

autosomal dominant

Question 10

Klinefelters karyotype

Answer 10

47 XXY

Question 11

Klinefelters genotype

Answer 11

Slim quiet man with little pubic or chest hair and small firm testicles

Question 12

Are autosomal dominant conditions metabolic or structural

Answer 12

‘metabolic’ - exceptions: inherited ataxias

Question 13

Are autosomal recessive conditions metabolic or structural

Answer 13

‘structural’ - exceptions: Gilbert’s, hyperlipidaemia type II

Question 14

How is haemophilia A inherited

Answer 14

X linked recessive

Question 15

How is sickle cell inherited

Answer 15

Autosomal recessive