Paediatric Genetics

Question 1

What is Trisomy 21 also known as?

Answer 1

Downs Syndrome

Question 2

What conditions are associated with Downs syndrome?

Answer 2

Learning difficulties 
Congenital heart disease 
Hypothyroidism 
Immunity 
Early onset Alzheimer's disease

Question 3

What dysmorphic features of the head might suggest a genetic condition?

Answer 3

Shape
Size (macrocephaly, microcephaly)
Ear position

Question 4

What dysmorphic features of the eyes might suggest a genetic condition?

Answer 4

Hypertelorism (inner canthal disease, inter-pupillary distance)
Telecanthus/ epicanthic folds

Question 5

What dysmorphic features of the hands might suggest a genetic condition?

Answer 5

Finger length
Digital abnormalities
Palmar creases

Question 6

What happens in foetal akinesia syndrome?

Answer 6

Reduced foetal movement 
Reduced breathing 
Contractures 
Clefting 
Lung hypoplasia

Question 7

What are VATER associations?

Answer 7

Veterbral anomalies
Ano-rectal atresia
Tracheo-oesophageal fistula
Radial anomalies

Question 8

What chromosome is Turner syndrome linked to?

Answer 8

45, X

Question 9

What are the signs and symptoms of Turner syndrome?

Answer 9

Lymphoedema
Increased carrying angle, low hairline, wide set nipples, sandal gap
Short stature
Mild learning difficulties

Question 10

What conditions are associated with Turner syndrome?

Answer 10

Coarctation of aorta 
Hypothyroidism 
UTI
Osteoporosis 
Hypertension  
Primary amenorrhoea and infertility

Question 11

What are the main features of acrocephalopolysyndactyly?

Answer 11

Tall forehead
Polydactyly
Syndactyly