Neurodisability and Genomics Flashcards
IQ lower limit for normal
70
IQ lower limit for mild
50
IQ lower limit for moderate
35
IQ lower limit for severe
20
what age does teething start
5-7 months
a genetic cause of hypercalcaemia
williams
Fragile X inheritence, gene and test
X linked dominant
CGG repeat on FMR1
FMR testing (not microarray)
sickle cell inheritance
autosomal recessive
achondroplasia inheritance
autosomal dominant (recessive form is lethal)
features of hypochondroplasia
fewer skeletal abnormalities
mild learning disability
how does homocystinuria differ from Marfans
homocystinuria has restriced joint movements, developmental delay and down/in lens dislocation
what form of Downs syndrome is familial
translocation
features of fanconi anaemia
deafness
forearm abnormalities
aplastic anaemia
hypogonadism
cancer
features of fanconi syndrome
renal disease causing polyuria, polydipsia,growth failure, rickets, U+Es
SMA inheritance
autosomal or X linked recessive
features of valproate syndrome
spina bifida
cleft palate
hypospadia
features of phenytoin syndrome
facies
nail changes
IUGR
main feature of isotretinoin syndrome
external ear abnormalities
main feature of warfarin syndrome
nasal abnormality
inheritance of friedrichs ataxia
autosomal recessive
what levels are high in anorexia
GH
cortisol
features of Angelmans
happy developmental delay, jerky movements, microencephaly, seizures
investigation and management of breath holding attacks
FBC and treat any IDA
treatment of Prader Willi
GH
symptoms of Friedrich’s ataxia
ataxia, affecting the legs first
hypertrophic cardiomyopathy
DM
weakness
loss of proprioception
sotos syndrome presentation
developmental delay
tall and big head
pointed chin and red cheeks
Paternal imprinting of Angelmans
Prader Willi
Patau trisomy and fingers
13 and polydactyly
X linked dominant in pedigree
affected male has only affected daughters
test for angelman’s
DNA methylation
