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THIRD YEAR > extra > Flashcards

extra Flashcards

1
Q

cri du chat 5P

A

microcephaly severe/profound LD

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2
Q

angel man 15Q

A

maternally derived

LD, ataxia, paroxysm of laughter

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3
Q

Prader Willi 15Q

A

paternally derived

LD, over eating, self injurious behaviour

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4
Q

velo cardiofacial syndrome 22Q

A

50% have LD, increased risk of schiz

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5
Q

williams syn

A

7Q

1/7500

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6
Q

turners

A

45, XO

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7
Q

klinefelters

A

XXY

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8
Q

defects that cause severe LD

A

protein - phenylketonuria
carbohydrate - mucopolysacchrridoses
lipid metab - neurolipidoses

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THIRD YEAR (27 decks)

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