Genetic Disease Flashcards
Downs:
What trisomy is this?
What does it result in?
When is it diagnosed?
21
Global developmental delay
Antenatally otherwise spotted at birth/soon after
Downs:
Facial appearance: Face Back of head Neck Nose Eyes Ears Mouth Tongue
Round face Flat occiput Short neck Flat nose Upsland eyes Small ears Small mouth with protruding tongue
Downs:
Hands and feet
MSK
Single palmar crease
Incurved 5th finger
Sandal gap
Hypotonia
Flexible ligaments
Downs:
Associated problems:
heart
GI - 2
Congenital heart disease - AVSD or VSD
Duodenla atresia
Hirschsprungs
Downs:
Later life issues: Motor Height Learning Sensory Other diseases
Delayed motor milestones
Short stature
Moderate to severe learning difficulties
Vision/hearing problems
Other diseaes - early dementia infection risk, hypothyroidism, coelioc, epilepsy etc.
Downs:
Diagnosis
Prognosis
Quantitative fluorescence PCR (rapid) or karyotyping
Use down specific growth chart for plotting height and weight
Heart defects are the major killer
22q11 deletion syndrome
It has a wide range of presentations.
The most common are?
Non-specific learning difficulties Short stature Increased adult psychosis Autismn ADHD
22q11 deletion syndrome
Presentation mnenumonic CATCH 22
How is it diagnosed?
Cardiac abnormality Abnormal facies Thymic hypoplasia Cleft palate Hypocalcaemia 22q11 deletion
fluorescence in situ hybridization (FISH)
Fragile X syndrome
What gene is responsible?
Who is it more common in?
Is it inherited or not?
FMR1 gene on chromosome X
Males
Yes it is inherited
Fragile X syndrome
Psychological issues
Behavioural issues
Physical problems
Appearance
How is it diagnosed?
Learning difficulties
Behavioural issues - autism, ADHD
Physical problems - hypotonia, motor delay
Large head and ears
prominent chin and forehead
large testes
PCR or southern blot to determine number of CGG repears
