Development

Question 1

What are acquired development pathologies?

Answer 1

Caused by non-genetic environmental factors

Question 2

Name 3 examples of acquired pathologies.

Answer 2

Tuberculosis
Lung cancer
AIDS

Question 3

What are congenital pathologies?

Answer 3

Pathologies present at birth

Question 4

What are examples of types of congenital pathologies

Answer 4

Non-genetic
Spontaneous mutation
Genetic mutation

Question 5

Name examples of spontaneous mutation e.g. trisomy

Answer 5

Down’s syndrome - trisomy 21
Edward’s syndrome - trisomy 18
Patua’s syndrome - trisomy 13

Question 6

What are inherited pathologies?

Answer 6

Pathologies caused by inherited genetic anomalies

Question 7

Name examples of single gene mutations

Answer 7

CF - autosomal recessive
Sickle cell anaemia - AR
FAP - AD
Colourblindness - X-linked
Huntington’s - AD

Question 8

Name an example of a polygenic mutation

Answer 8

Breast cancer risk

Question 9

What are multifactorial pathologies?

Answer 9

Pathologies caused by a mix of genetic and environmental factors

Question 10

Name 2 examples of mutifactorial pathologies

Answer 10

Neural tube defect
Cleft palate