Genetics

Question 1

what chromosome is associated with neurofibromatosis type 1

Answer 1

17

Question 2

what chromosome is associated with neurofibromatosis type 2

Answer 2

22

Question 3

How does neurofibromatosis type 1 present

Answer 3

cutaneous manifestations (cafe au lait, lisch nodules)

Question 4

How does neurofibromatosis type 2 present

Answer 4

schwannomas, meningiomas

Question 5

How to remember MEN1 vs MEN2

Answer 5

first men pee then secondly they wash their hands with the tap

Question 6

what cancers are associated with men1?

Answer 6

Pituitary, parathyroid, pancreas

Question 7

what cancers are associated with men2?

Answer 7

Thyroid, parathyroid, adrenal

Question 8

How to remember Pierre Robin?

Answer 8

imagine a robin in Pierre’s mouth (cleft palate and posteriorly displaced tongue)

Question 9

How to remember Williams syndrome?

Answer 9

Will Ferrell in elf

• elfin like faces
• friendly with strangers
• silly (intellectual disability)
• searching for love (cardiac problems)

Question 10

How to remember Cri du Chat?

Answer 10

Cri du Ch5t - 5p deletion

characteristic cry, feeding difficulties, poor weight gain

Question 11

How to remember Patau syndrome?

Answer 11

Pato - little duck with 13 fingers

• small head, small ears, polydactyl, cleft lip/palate
• chromosome 13

Question 12

How to remember Klienefleters syndrome?

Answer 12

‘Kleinfield’ dress shop

• XXY, men who have high oestrogen to testosterone ratio
• slim tall males, hypogonadism, gynaecomastia

Question 13

What are the different types of genetic tests?

Answer 13

• PCR

- next generation sequencing

Question 14

what are the types of mutation in DNA sequences?

Answer 14

• premature stop
• missense (one change but still makes sense)
• insertion
• deletion (out or in frame)
• triplet expansion

Question 15

what are key features of AD conditions?

Answer 15

• affect males and females equally

- present in every generation

Question 16

what are examples of AD conditions?

Answer 16

• Huntingtons
• Marfans
• neurofibromatosis 1

Question 17

what are key features of AR diseases

Answer 17

• phenotype not present in every generation
• offspring may be carriers
• seen equally in males and females

Question 18

what are examples of AR conditions?

Answer 18

• Cystic fibrosis
• sickle cell
• thalassaemia
• wilsons
• Von willibrand
• congenital adrenal hyperplasia

Question 19

what are key features of X linked recessive conditions

Answer 19

• not present in every generation

- males exclusively affected

Question 20

what are examples of X linked recessive conditions

Answer 20

• Haemophilia A, B
• Duchenne muscular dystrophy
• G6PD

Question 21

what are key features of X linked dominant conditiosn

Answer 21

• present in every generation

- seen equally in males and females

Question 22

what are examples of X linked dominant conditions

Answer 22

• Alport syndrome
• Rett Syndrome
• Fragile X syndrome

Question 23

brushfield spots

Answer 23

Down’s sydrome

Question 24

smooth philtrum and thin upper lip

Answer 24

foetal alcohol syndrome

Question 25

which genetic condition causes a climb in FSH and LH?

Answer 25

Kleinfelters (climb-felters)

Question 26

which genetic condition causes a fall in FSH and LH

Answer 26

Kallmans (fallmans)