Genetics Flashcards
what chromosome is associated with neurofibromatosis type 1
17
what chromosome is associated with neurofibromatosis type 2
22
How does neurofibromatosis type 1 present
cutaneous manifestations (cafe au lait, lisch nodules)
How does neurofibromatosis type 2 present
schwannomas, meningiomas
How to remember MEN1 vs MEN2
first men pee then secondly they wash their hands with the tap
what cancers are associated with men1?
Pituitary, parathyroid, pancreas
what cancers are associated with men2?
Thyroid, parathyroid, adrenal
How to remember Pierre Robin?
imagine a robin in Pierre’s mouth (cleft palate and posteriorly displaced tongue)
How to remember Williams syndrome?
Will Ferrell in elf
- elfin like faces
- friendly with strangers
- silly (intellectual disability)
- searching for love (cardiac problems)
How to remember Cri du Chat?
Cri du Ch5t - 5p deletion
characteristic cry, feeding difficulties, poor weight gain
How to remember Patau syndrome?
Pato - little duck with 13 fingers
- small head, small ears, polydactyl, cleft lip/palate
- chromosome 13
How to remember Klienefleters syndrome?
‘Kleinfield’ dress shop
- XXY, men who have high oestrogen to testosterone ratio
- slim tall males, hypogonadism, gynaecomastia
What are the different types of genetic tests?
- PCR
- next generation sequencing
what are the types of mutation in DNA sequences?
- premature stop
- missense (one change but still makes sense)
- insertion
- deletion (out or in frame)
- triplet expansion
what are key features of AD conditions?
- affect males and females equally
- present in every generation
what are examples of AD conditions?
- Huntingtons
- Marfans
- neurofibromatosis 1
what are key features of AR diseases
- phenotype not present in every generation
- offspring may be carriers
- seen equally in males and females
what are examples of AR conditions?
- Cystic fibrosis
- sickle cell
- thalassaemia
- wilsons
- Von willibrand
- congenital adrenal hyperplasia
what are key features of X linked recessive conditions
- not present in every generation
- males exclusively affected
what are examples of X linked recessive conditions
- Haemophilia A, B
- Duchenne muscular dystrophy
- G6PD
what are key features of X linked dominant conditiosn
- present in every generation
- seen equally in males and females
what are examples of X linked dominant conditions
- Alport syndrome
- Rett Syndrome
- Fragile X syndrome
brushfield spots
Down’s sydrome
smooth philtrum and thin upper lip
foetal alcohol syndrome
which genetic condition causes a climb in FSH and LH?
Kleinfelters (climb-felters)
which genetic condition causes a fall in FSH and LH
Kallmans (fallmans)
