genetic and chromosome disorders

Question 1

downs syndrome

Answer 1

caused by chromosome mutation (47 chromosomes)
short height, flattened nose and high cheek bones
have learning disabilities and often heart defects

Question 2

phenylketonuria (PKU)

Answer 2

genetic disorder
can’t process an amino acid called phenylalanine
newborn’s tested at birth using blood from small heal prick

Question 3

sickle cell disease

Answer 3

inherited disease caused by mutations. red blood cells are shaped like sickles, they get stuck in small blood vessels which can slow blood flow and oxygen to parts of the body

pregnant women offered screening tests for this disorder

Question 4

what is cystic fibrosis

Answer 4

causes mucus to build up in the lungs and digestive system

respiratory infections are common

Question 5

Huntington’s disease

Answer 5

rare genetic disorder
individuals usually in their 40’s before signs are apparent
faulty allele causes brain damage resulting in personality changes, irritability, mood swings, dementia etc

Question 6

allele meaning

Answer 6

a variant form of a gene