genetics

Question 1

down syndrome

Answer 1

what is down syndrome
- down syndrome is an error is cell divison called ‘ nondisjunction ‘ where embryo has 3 sets of chromsome 21 rather than the usal two, as well as this is can effect psychial and intellectual ability

what are the symptoms
flattered face, almond eyes, shorter neck and smaller ears this is due to genetic changes which results in craniofacial development
devlopeental delays, it may be harder for children with down syndrome to hit certain milestones such as walking and crawling, they may find this harder because of lower muscle tone ( hypontia) also have shorter legs
learning difficulties may find it harder to recall information, trouble with speech and mempry it is ually mild to moderate learning disabilties

what other bodily systems do down synrome affect
- cardiovascular disease - 40-60% of people with down sydrome down sysdrome have Chd common condtions like atrioventerical septal development can lead to poor blood circulation around the body reducing the amount of oxygenated blood being circulated arounf the body which reduces energy levels, this can be fixed through surgery and interventiion

DOWN SHYNROME IS A GENTIC DISEASE AND IS NOT INHERITIED.

immune system- people with down synrome may be more suseptail to immune systems dysfuntions and autoimmune conditions like thyroid disease and diabetes

muscskeltal problems. hypotina and joint laxity are in down ydrome which increase the risk of othopedic issues such as sclosis and hip dislocation

Question 2

cystic fibrosis

Answer 2

cystic fibrosis is a thick sticky mucus that usally builds up in the lungs and pancreas, this causes blockage in airways, coughing and wheezing

what bodily systems does it affect + symtoms
repitory system
constant infections - frequent infections such as bronchitis as people with CF are prone to bacterial infections as mucus traps materials which will be ideal for bacteria to grow in, happenes often and hard to treat,,, coughing and wheezing
digestive system- unable to gain weight - thick sticky mucus may be in pancrease, the paancreas is essential for realseing enzymes which is important for food digestion, but the mucus blocks enzymes from being realsed making it harder to absorb foods espeically proteins and fats resulting in not easily gainingg wait #

reproductive system- puberty may be delayed as all the energy is used for fighting infection and not producing energy

reccesive- both parents need CFTR gene

how can it be gentic testing
sweat
aa small peice of skin usally forarm is stimulated with mild electric current which produces sweat and the sweat is measured for is sakt levels over 60 mmol/lv means you have CV

Question 3

cystic fibros

Question 4

hugtigtons disease