Genetics

Question 1

Down syndrome

Answer 1

Trisomy 21

Question 2

What are the signs of down syndrome?

Answer 2

Dysmorphic features – round face, brachycephaly (small head, flat back), flat occiput, protruding tongue, epicanthic folds, upslanting palpebral fissures, brushfield spots in iris, single palmar crease, reduced tone, sandal gap
Learning disability
ASVD
Hypothyroidism

Question 3

How is down syndrome investigated?

Answer 3

Chromosomes
ECHO
TFTs
Tissue transglutaminase

Question 4

How is down syndrome managed?

Answer 4

Developmental/ learning support
MDT
Routine screening – regular thyroid checks, ECHO

Question 5

Turner syndrome

Answer 5

45 X0

Question 6

What are the signs of turner syndrome?

Answer 6

Lymphoedema – puffy feet, nuchal translucency
Low hairline, wide nipples, sandal gap
Short stature
Coarctation of the aorta
Mild learning difficulty
Hypothyroidism, UTI, osteoporosis, hypertension
Primary amenorrhoea

Question 7

What are the complications of turner syndrome?

Answer 7

Infertility

Question 8

What sex is turner syndrome more common in?

Answer 8

Only effects females

Question 9

DiGeorge syndrome

Answer 9

22q11 deletion

Question 10

What are the signs of DiGeorge syndrome?

Answer 10

Cleft palate
Abnormal face
Thymic hypoplasia
Calcium
Tetralogy of fallot