Abnormal Development

Question 1

Definition of congenital abnormality?

Answer 1

Present at birth

Question 2

What are 3 examples of chromosomal abnormalities?

Answer 2

• Trisomy 21: down’s syndrome
• Trisomy 18: edward’s syndrome
• Trisomy 13: Patau’s syndrome

Question 3

Are congenital diseases hereditary or non-genetic?

Answer 3

Can be hereditary, spontaenous, non-genetic determind by failures of differentiation and morphogenesis

Question 4

Definition of inherited abnormality?

Answer 4

Caused by inherited genetic abnormality

Question 5

Types of inherited genetic abnormalities?

Answer 5

Mendelian, autosomal, polygenic

Question 6

When do inherited abnormalities manifest?

Answer 6

May not manifest until later in life

Question 7

Examples of autosomal recessive (inherited)?

Answer 7

Cystic Fibrosis and Sickle Cell Anaemia

Question 8

Examples of autosomal dominant (inherited)

Answer 8

Huntington’s - doesn’t manifest until later life

Question 9

Examples of X-linked? (inherited)

Answer 9

colour blindness, muscular dystrophy

Question 10

Definition of acquired abnormality?

Answer 10

Caused by non-genetic environmental factors but may be congenital

Question 11

Examples of acquired?

Answer 11

Fetal alcohol syndrome, TB, lung cancer, AIDS

Question 12

Definition of multifactoral abnormality?

Answer 12

Due to many different factors

Question 13

What are some examples of multifactorial neural tube defects?

Answer 13

spina bifida, anencephaly, hydrocephalus

Question 14

Definition of polygenic gene disorder?

Answer 14

genetic disease which is the result of the interaction of several different genes, usually on different chromosomes

Question 15

Example of a polygenic gene disorder?

Answer 15

Breast cancer (BRCA1/2) - rises in risk of unrelated genes even with strong family history