Genetics

Question 1

Malformation

Answer 1

Primary structural defect
Affects single organ 
Multifactorial 
Can be inherited or environment
ATRIAL SEPTAL DEFECTS, CLEFT LIP

Question 2

Disruption

Answer 2

Secondary structural defect
Caused by environment : infection, ischaemia, trauma
AMNIOTIC BAND

Question 3

Deformation

Answer 3

Mechanical force deforms structure

CLUB FOOT, HIP DISLOCATION

Question 4

Syndrome

Answer 4

Consistent pattern of abnormalities
Underlying cause
Inherited
DOWN SYNDROME

Question 5

Sequence

Answer 5

Many abnormalities
One primary factor
LOW AMNIOTIC FLUID - POTTERS

Question 6

Dysplasia

Answer 6

Abnormal organisation of cells in tissue
High recurrence
Single gene defect

Question 7

Association

Answer 7

Linked abnormalities
No known cause
VACTERL

Question 8

What is used to stain chromosomes

Answer 8

Giemsa

Question 9

Patau syndrome

Answer 9

Heart defects
Mental retardation
Holoprocencepathy

Question 10

Edwards syndrome

Answer 10

Heart defects
Mental retardation
Digestive tract defects
Kidney malformation

Question 10

Di George

Answer 10

Cardiac abnormalities
Hypoplastic thymus
Hypocalcaemia
Deletion on chr 22 codes for TF

Question 10

Charcot Marie tooth

Answer 10

Muscle weakness
Hypotonia
Missing reflexes
Foot deformation
Duplication on chr 17 codes for myelin protein

Question 11

Give examples of pharmacogenics

Answer 11

KRAS for colorectal cancer = if have KRAS mutation =less likely to respond to drug cetuximab
EGFR = more likely to respond gefitnib
BCR-ABL1 unlikely to respond to dasatinib