Workshops Flashcards
Why are bowel operations sometimes needed in CF patients shortly after birth?
Bowel mouvement is blocked due to lack of mucus.
How can CF be tested for? (3).
Sweat test.
Genetic test.
Nasal epithelial transconductance test.
Name four triplet repeat disorders:
Huntington’s.
Spinocerebellar ataxia.
Spinal atrophy.
Myotonic dystrophy.
Why does anticipation occur in Huntington’s disease?
Number of triplet repeats increases in every generation.
How is the genetic change in Huntington’s tested for?
PCR and electrophoresis to determine length.
What does MEGF10 cause?
EMARRD.
Congenital myopathy.
What are the problems associated with EMARRD? (4).
Myopathy.
Areflexia.
Respiratory distress.
Dysphagia.
What does Joubert syndrome cause? (3).
Developmental delay.
Seizures.
Specific MRI changes.
What is CLN8 gene associated with? (3).
Epilepsy.
Mental retardation.
Motor problems.
What are the characteristics of William’s syndrome? (7).
Low nasal bridge. Cheery demeanour. Ease with strangers. Developmental delay. Strong language skills. Supravalvular aortic stenosis. Transiently high blood Ca.
What does a deletion at 7q11.23 lead to?
William’s syndrome.
What is the more common name for Velo-Cardio-Facial Syndrome?
DiGeorge syndrome.
Which condition is associated with variation in the TBX1 gene?
DiGeorge syndrome.
What is the TBX1 gene required for?
Normal development of pharyngeal arch.
Which syndrome is caused by mutations in the SCARF2 gene?
Ven den Ende-Gupta syndrome.
