Genetic Factors Flashcards
What is cystic fibrosis?
A recessive genetic condition in which the lungs become clogged with thick mucus due to a defective protein, causing respiratory and digestive issues.
Can be managed with medication, physiotherapy, and a special diet to ensure nutritional needs are met.
What is brittle bone disease?
A genetic mutation or an inherited faulty gene affects collagen, resulting in bones that easily break or fracture.
Can be managed with medication that strengthens bones, physiotherapy and assistive equipment.
What is phenylketonuria (PKU)?
A rare genetic disorder in which the body cannot break down some proteins found in foods such as milk, meat or eggs. This causes a phenylalanine build-up, which can result in serious damage to the brain and death.
The diagnosis is offered in newborns, so that the condition can be managed immediately with diet and medication.
What is Huntington’s disease?
The condition usually begins to develop between 35 and 55 years as a result of inheriting faulty genes. There is progressive damage to brain cells, which is fatal after 15–20 years.
Symptoms include reduction in motor coordination, memory problems, mood swings, and impact on cognition.
What is Huntington’s disease?
The condition usually begins to develop between 35 and 55 years as a result of inheriting faulty genes. There is progressive damage to brain cells, which is fatal after 15–20 years.
Symptoms include reduction in motor coordination, memory problems, mood swings, and impact on cognition.
What is Klinefelter’s syndrome?
A condition that affects boys, where an extra X chromosome is acquired after conception.
Results in reduced muscle strength, smaller sex organs, taller height, a lack of body hair, a reduction in testosterone and fertility issues. Children with the syndrome also tend to be quieter and more passive.
What is Down’s syndrome?
Occurs due to an extra copy of chromosome 21, which usually occurs due to mutations after conception.
This can cause different levels of learning disability, changes to physical appearance (e.g. facial features). People with Down’s syndrome are also at a higher risk of other physical health conditions, such as heart defects.
What is Down’s syndrome?
Occurs due to an extra copy of chromosome 21, which usually occurs due to mutations after conception.
This can cause different levels of learning disability, changes to physical appearance (e.g. facial features). People with Down’s syndrome are also at a higher risk of other physical health conditions, such as heart defects.
What is colour blindness?
While true colour blindness is very rare, the term often refers to colour deficiency, meaning difficulties in telling colours apart.
The condition is usually due to a genetically inherited retina abnormality. Knowing about the condition can help facilitate a child’s learning, but otherwise does not usually cause long-term issues.
What is colour blindness?
While true colour blindness is very rare, the term often refers to colour deficiency, meaning difficulties in telling colours apart.
The condition is usually due to a genetically inherited retina abnormality. Knowing about the condition can help facilitate a child’s learning, but otherwise does not usually cause long-term issues.
What is Duchenne muscular dystrophy?
One of many types of muscular dystrophy; caused by mutations on the X chromosome that interfere with proteins that repair and build muscles.
This type mostly affects boys and is particularly severe, with most sufferers living only until their 20s/30s.
There is a gradual weakening of the muscles, which leads to severe disability.
What does the term ‘congenital’ mean?
Present at birth. Can be due to either genes, infections, or lifestyle factors (eg. diet) of the mother.
Give examples of congenital defects caused by biological factors.
The most common examples are Down’s syndrome, heart defects, or nervous system problems.
Give examples of congenital defects caused by biological factors.
The most common examples are Down’s syndrome, heart defects, or nervous system problems.
Give examples of congenital disorders caused by viral infections.
Examples include:
- Rubella (can cause heart and vision/hearing problems)
- Cytomegalovirus (CMV), which is part of the herpes virus family (can cause learning disability and deafness). This can be treated with antiviral medication after the baby is born.
