Genetics Flashcards
1
Q
Down syndrome is caused by a trisomy in which chromosome?
A
21
2
Q
which chromosomal abnormality is present in Turner syndrome?
A
45X (i.e. no second X chromosome)
3
Q
what are the symptoms of 22q11 deletion syndrome?
A
C ardiac maformation A bnormal face T hymic hypoplasia C left palate H ypoparathyroidism 22 q11 deletion
(also renal and psychiatric)
4
Q
digeorge syndrome and shprintzen syndrome can both be encompassed by which overlapping umbrella syndrome?
A
22q11 deletion
5
Q
what are some symptoms of Williams syndrome?
A
aortic stenosis hypercalcaemia 5th finger clinodactyly characteristic face cocktail party manner
6
Q
what is the name of the criteria set for Marfan syndrome?
A
Ghent 2010 criteria
