Neurodisability and Genomics Flashcards

1
Q

IQ lower limit for normal

A

70

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2
Q

IQ lower limit for mild

A

50

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3
Q

IQ lower limit for moderate

A

35

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4
Q

IQ lower limit for severe

A

20

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5
Q

what age does teething start

A

5-7 months

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6
Q

a genetic cause of hypercalcaemia

A

williams

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7
Q

Fragile X inheritence, gene and test

A

X linked dominant
CGG repeat on FMR1
FMR testing (not microarray)

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8
Q

sickle cell inheritance

A

autosomal recessive

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9
Q

achondroplasia inheritance

A

autosomal dominant (recessive form is lethal)

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10
Q

features of hypochondroplasia

A

fewer skeletal abnormalities
mild learning disability

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11
Q

how does homocystinuria differ from Marfans

A

homocystinuria has restriced joint movements, developmental delay and down/in lens dislocation

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12
Q

what form of Downs syndrome is familial

A

translocation

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13
Q

features of fanconi anaemia

A

deafness
forearm abnormalities
aplastic anaemia
hypogonadism
cancer

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14
Q

features of fanconi syndrome

A

renal disease causing polyuria, polydipsia,growth failure, rickets, U+Es

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15
Q

SMA inheritance

A

autosomal or X linked recessive

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16
Q

features of valproate syndrome

A

spina bifida
cleft palate
hypospadia

17
Q

features of phenytoin syndrome

A

facies
nail changes
IUGR

18
Q

main feature of isotretinoin syndrome

A

external ear abnormalities

19
Q

main feature of warfarin syndrome

A

nasal abnormality

20
Q

inheritance of friedrichs ataxia

A

autosomal recessive

21
Q

what levels are high in anorexia

A

GH
cortisol

22
Q

features of Angelmans

A

happy developmental delay, jerky movements, microencephaly, seizures

23
Q

investigation and management of breath holding attacks

A

FBC and treat any IDA

24
Q

treatment of Prader Willi

25
symptoms of Friedrich's ataxia
ataxia, affecting the legs first hypertrophic cardiomyopathy DM weakness loss of proprioception
26
sotos syndrome presentation
developmental delay tall and big head pointed chin and red cheeks
27
Paternal imprinting of Angelmans
Prader Willi
28
Patau trisomy and fingers
13 and polydactyly
29
X linked dominant in pedigree
affected male has only affected daughters
30
test for angelman's
DNA methylation