36. Genetic Presentations

Question 1

Outline the aetiology of Down Syndrome

Answer 1

Aetiology = trisomy 21

Question 2

How does down syndrome present?

Answer 2

LD

Flat face

Abundant neck skin

Dysplastic ears

Muscle hypotonia

Dysplastic pelvis

Protruding tongue

Question 3

How is down syndrome screened for?

Answer 3

Combined test (11-13w) = NT +hCG + PAPP-A + womans age

Question 4

How is down syndrome Mx?

Answer 4

Regular appts with paediatrician

SALT

Physio = help walking if they have low muscle tone

Optician or hearing specialist

OT = for help with their development

Question 5

What conditions are associated with down syndrome?

Answer 5

ASD, VSD

Duodenal atresia

ToF

LD

Hypothyroidism

Question 6

Outline the aetiology and pathophysiology of Turners syndrome

Answer 6

Partial or complete loss (monosomy) of the second sex chromosome

Question 7

How does turners syndrome present?

Answer 7

Newborn = lymphoedema in the hands/feet, aortic coarctation, absent kidneys, widely spaced nipples

Infancy = short stature, webbed neck, behavioural diff, recurrent otitis media, hearing loss

Adolescence = gonadal dysgenesis (absent/incomplete puberty), amenorrhoea, impaired growth

Question 8

How is turners syndrome Mx?

Answer 8

• recombinant growth hormone
• supplemental oestrogen
• surveillance of cardiac, renal, ENT, autoimmune probs
• psychological support

Question 9

How is turners syndrome Dx?

Answer 9

Karyotyping

• amniocentesis
• postnatal blood tests