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MCD Extra > Genetics > Flashcards

Flashcards in Genetics Deck (13):
1

Malformation

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

2

Disruption

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

3

Deformation

Mechanical force deforms structure
CLUB FOOT, HIP DISLOCATION

4

Syndrome

Consistent pattern of abnormalities
Underlying cause
Inherited
DOWN SYNDROME

5

Sequence

Many abnormalities
One primary factor
LOW AMNIOTIC FLUID - POTTERS

6

Dysplasia

Abnormal organisation of cells in tissue
High recurrence
Single gene defect

7

Association

Linked abnormalities
No known cause
VACTERL

8

What is used to stain chromosomes

Giemsa

9

Patau syndrome

Heart defects
Mental retardation
Holoprocencepathy

10

Edwards syndrome

Heart defects
Mental retardation
Digestive tract defects
Kidney malformation

10

Di George

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

10

Charcot Marie tooth

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

11

Give examples of pharmacogenics

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