Genetics

Question 1

What is Kleinfelter Syndrome?

Answer 1

47 XXY - male has an additional X

Question 2

What are the clinical features of Kleinfelter Syndrome?

Answer 2

Tall, wider hips, weaker muscles, small testicles, shyness, reduced libido, gynaecomastia, infertility

Question 3

What is high in Kleinfelter syndrome?

Answer 3

FSH and LH

Question 4

What is the management of Kleinfelter Syndrome?

Answer 4

Testosterone injections
IVF
SLT
Physio
Educational support

Question 5

What is Turners Syndrome?

Answer 5

A female has a single X making them 45 XO

Question 6

What are the clinical features of Turners Syndrome?

Answer 6

Short stature, spoon shaped nails, webbed neck, high arch palate, downward sloping eyes, cubitus valgus, broadly spaced nipples

Question 7

What is the treatment of Turner Syndrome?

Answer 7

Growth hormone therapy
Oestrogen and progesterone
Fertility treatment

Question 8

What is Down Syndrome?

Answer 8

Three copies of chromosome 21

Question 9

What are the clinical features of Downs?

Answer 9

Brachycephaly (small head and flat back)
Short neck and short stature
Flattened facial features
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
Wide sandal gap

Question 10

What is the combined test for Downs?

Answer 10

USS at 11-14 weeks measures nuchal translucency - back of head thickness

Question 11

Give 2 antenatal testing techniques for downs

Answer 11

Chorionic villus sampling
Amniocentesis

Question 12

What is the gold standard test for Downs

Answer 12

karyotype analysis of foetal cells via chorionic villus sampling or amniocentesis

Question 13

What is checked 2 yearly in Downs?

Answer 13

Thyroid

Question 14

What is Edward Syndrome?

Answer 14

Trisomy 18

Question 15

What are some USS findings of Edward Syndrome?

Answer 15

Growth restriction
Single umbilical artery
Small placenta
Polyhydraminos
Strawberry shaped head

Question 16

What are some features of Edward Syndrome in live born infants?

Answer 16

Congenital heart defects
Severe GORD
Severe intellectual disability
Seizures

Question 17

What is Patau Syndrome?

Answer 17

Trisomy 13

Question 18

What are some prenatal presentations of Patau Syndrome?

Answer 18

cleft lip and palate
Microcephaly
Cutis aplasia - skin missing from scalp
Kidney cysts
Small penis
Microphthalmia - small eyes
Rocket bottom feet

Question 19

What are some postnatal features of Patau Syndrome?

Answer 19

Low birth weight
Sloping forehead
Close set eyes
Short nose
Cleft palate
Small jaw
Low set ears
Cataracts
Seizures

Question 20

What is fragile X syndrome?

Answer 20

Mutation in FMR1 gene on X chromosome important in cognitive development
Always males

Question 21

What is the presentation of fragile X syndrome?

Answer 21

Delayed S&L
Intellectual disability
Long, narrow face and large ears
Large testicles
Hypermobile joints

Question 22

What is muscular dystrophy?

Answer 22

Progressive weakness and loss of muscle mass due to mutations in genes responsible for production of dystrophin resulting in progressive muscle degeneration

Question 23

What are the clinical features of muscular dystrophy?

Answer 23

Progressive weakness
Delayed milestones
Waddling gait
Faltering growth
Fatigue
Intellectual impairment
Tip toe walking

Question 24

What is Gowers sign?

Answer 24

DMD - child climbs up their legs when rising from the floor

Question 25

What is calf pseudohypertrophy?

Answer 25

accumulation of connective tissue and fat replacing muscle tissue

Question 26

What are the investigations for muscular dystrophy?

Answer 26

Serum creatine kinase leaks from damaged muscle cells Genetic analysis Muscle biopsy - dystrophin protein ECG and ECHO

Question 27

What is Angelman Syndrome?

Answer 27

Loss of function of UBE3A gene (deletion on C15)

Question 28

What are some clinical features of Angelman syndrome?

Answer 28

Happy demeanour Wide mouth with widely spaced teeth Fascination with water Coordination and balance problems Inappropriate laughter Hand flapping ADHD

Question 29

What is Prader Willi Syndrome?

Answer 29

Loss of functional genes on proximal arm of C15 from father

Question 30

What are some features of Prader Willi?

Answer 30

Constant insatiable hunger causing obesity Poor muscle tone Mild-moderate learning disability Hypogonadism Fairer soft skin Dysmorphic features Narrow forehead Almond eyes Squint

Question 31

What are the clinical features of Noonan Syndrome?

Answer 31

Thickly hooded eyes Wispy hair Discoloured skin spots Large, tall forehead Widely spaced nipples and eyes Webbed neck

Question 32

What are some conditions associated with Noonans?

Answer 32

Congenital heart disease - PVD, ASD Cryptochidism Learning disability Bleeding disorders

Question 33

What is the diagnosis for Noonan?

Answer 33

Amniocentesis Foetal USS Chorionic villus sampling Genetic testing Physical exam at birth

Question 34

What is William Syndrome?

Answer 34

Deletion of 25-28 genes on one copy of C7 usually due to random deletion

Question 35

What are the clinical features of Williams Syndrome?

Answer 35

Broad forehead Very sociable and trusting Starburst eyes Long philtrum Flat nasal bridge Small chin

Question 36

What are some conditions associated with Williams Syndrome?

Answer 36

ADHD Supravalvular aortic stenosis Hypercalcaemia Hypertension