Neurodisability and Genomics

Question 1

IQ lower limit for normal

Answer 1

70

Question 2

IQ lower limit for mild

Answer 2

50

Question 3

IQ lower limit for moderate

Answer 3

35

Question 4

IQ lower limit for severe

Answer 4

20

Question 5

what age does teething start

Answer 5

5-7 months

Question 6

a genetic cause of hypercalcaemia

Answer 6

williams

Question 7

Fragile X inheritence, gene and test

Answer 7

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

Question 8

sickle cell inheritance

Answer 8

autosomal recessive

Question 9

achondroplasia inheritance

Answer 9

autosomal dominant (recessive form is lethal)

Question 10

features of hypochondroplasia

Answer 10

fewer skeletal abnormalities
mild learning disability

Question 11

how does homocystinuria differ from Marfans

Answer 11

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

Question 12

what form of Downs syndrome is familial

Answer 12

translocation

Question 13

features of fanconi anaemia

Answer 13

deafness
forearm abnormalities
aplastic anaemia
hypogonadism
cancer

Question 14

features of fanconi syndrome

Answer 14

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

Question 15

SMA inheritance

Answer 15

autosomal or X linked recessive

Question 16

features of valproate syndrome

Answer 16

spina bifida
cleft palate
hypospadia

Question 17

features of phenytoin syndrome

Answer 17

facies
nail changes
IUGR

Question 18

main feature of isotretinoin syndrome

Answer 18

external ear abnormalities

Question 19

main feature of warfarin syndrome

Answer 19

nasal abnormality

Question 20

inheritance of friedrichs ataxia

Answer 20

autosomal recessive

Question 21

what levels are high in anorexia

Answer 21

GH
cortisol

Question 22

features of Angelmans

Answer 22

happy developmental delay, jerky movements, microencephaly, seizures

Question 23

investigation and management of breath holding attacks

Answer 23

FBC and treat any IDA

Question 24

treatment of Prader Willi

Answer 24

GH

Question 25

symptoms of Friedrich’s ataxia

Answer 25

ataxia, affecting the legs first
hypertrophic cardiomyopathy
DM
weakness
loss of proprioception

Question 26

sotos syndrome presentation

Answer 26

developmental delay
tall and big head
pointed chin and red cheeks

Question 27

Paternal imprinting of Angelmans

Answer 27

Prader Willi

Question 28

Patau trisomy and fingers

Answer 28

13 and polydactyly

Question 29

X linked dominant in pedigree

Answer 29

affected male has only affected daughters

Question 30

test for angelman’s

Answer 30

DNA methylation