1
Q
cri du chat 5P
A
microcephaly severe/profound LD
2
Q
angel man 15Q
A
maternally derived
LD, ataxia, paroxysm of laughter
3
Q
Prader Willi 15Q
A
paternally derived
LD, over eating, self injurious behaviour
4
Q
velo cardiofacial syndrome 22Q
A
50% have LD, increased risk of schiz
5
Q
williams syn
A
7Q
1/7500
6
Q
turners
A
45, XO
7
Q
klinefelters
A
XXY
8
Q
defects that cause severe LD
A
protein - phenylketonuria
carbohydrate - mucopolysacchrridoses
lipid metab - neurolipidoses
THIRD YEAR
flashcards
Decks in class (27)
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