Disorders of development

Question 1

describe congenital

Answer 1

present at birth

Question 2

describe inherited

Answer 2

caused by an inherited genetic abnormality

Question 3

describe acquired

Answer 3

caused by non-genetic environmental factors

Question 4

describe hypertrophy

Answer 4

increase in size of a tissue caused by an increase in size of the
constituent cells!

Question 5

describe hyperplasia

Answer 5

increase in size of a tissue caused by an increase in number of the
constituent cells

Question 6

what is a single gene disorder

Answer 6

abnormality of a single gene causes a disease

Question 7

what can single gene disorders be classified as?

Answer 7

• dominant
  -recessive
• autosomal or sex linked

Question 8

described dominant single gene disorders

Answer 8

single gene disorders will produce the disease where there is only one copy of the abnormal gene

Question 9

describe recessive single gene disorders

Answer 9

single gene disorders will only be expressed if both copies of the gene are abnormal.

Question 10

give an example of a single gene disorders

Answer 10

sickle cell anaemia

Question 11

descrive a polygenic gene disorder

Answer 11

a genetic disease which is the result of the interaction of several different genes (usually on different chromosomes).

Question 12

name an example of a polygenic gene disorder

Answer 12

breast cancer-
The genes BRCA1 and BRCA2 have a large individual effect on breast cancer.
Most of breast cancer risk is composed of incremental rises in risks by tens to hundreds of apparently unrelated genes even when there is a strong family history.

Question 13

describe what a congenital disease is

Answer 13

a disease someone is born with-Congenital diseases will be genetic, but it can also be acquired (occurs after birth). This will often by a disease which is due to environmental factors but it may have a strong genetic background.