Genetics: Turner Syndrome Flashcards
1
Q
What causes Turner’s syndrome?
A
Partial or complete loss of an X chromosome
2
Q
What is it also referred to as?
A
45,X
3
Q
Does Turner syndrome usually result in early miscarriage?
A
Yes in 95%
4
Q
It is increasingly detected antenatally by USS when…
A
Fetal oedema of neck, hands, feet seen or a cystic hygroma
5
Q
What may be the only clinical abnormality in children?
A
Short stature
6
Q
What clinical features are associated?
A
Short stature Wide carrying angle Neck webbing Widely spaced nipples Congenital heart defects - coarctation of aorta Delayed puberty Hypothyroidism Pigmented moles Recurrent otitis media Normal intellectual function in most cases
