Genetic Disorders by Cynthia Appelbaum https://padlet.com/cappelbaum/gb7gvavja7k6 Dominant vs. Recessive Occurrence rate, cause, effect, cure treatment, chromosome/gene (Pictures and videos encouraged!!!) en-us 2018-02-21 13:25:14 UTC 2024-12-15 08:01:01 UTC hello@padlet.com Marfan's syndrome cappelbaum https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233860543 2018-02-21 17:11:39 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233860543 Albinism https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879783 Evan and Albert
Rare Skin disorder in which the skin doesn't produce enough of the pigment melanin. People who have it can't be exposed to lots of sunlight and they have a high risk of skin cancer. This can be caused by several different incorrect chromosomes. It is autosomal recessive. Another rare form of albinism is ocular albinism, which primarily affects the eyes. There is no cure.



]]> 2018-02-21 17:44:06 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879783 Tay-Sachs https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879803 Dylan, Haroon, Ethan
 Shihotty

1/250
Caused by lack of HexA enzyme
Offspring recieve it if both parents are carrying the tay lachs gene
Affects the brain and nervous system
NO CURE
Autosomal recessive genetic disorder
Defective gene on 15th chromosome, causes body to not make a protein, hexosaminidase or HexA enzyme.]]> 2018-02-21 17:44:08 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879803 Down syndrome rose_garzon https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879834 aliyah and rose 



-congenital disorder caused by an extra chromosome  on the chromosome 21 pair, giving the person a total of 47 chromosomes rather than the normal 46

-causes developmental and intellectual disabilities 

-occurs in about 1 in every 700–1,000 live births

-shorter life expectancy (up to 55 years)

-no drug designed to treat syndrome 

]]> 2018-02-21 17:44:10 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879834 were doing hunting tongs disease https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879877 brandon t tomas and brandon o rats
-involuntary movements
-affects brain
-genetic disorder (not contagious)
-symptoms vary
-weight loss
-affects old people more than young, however symptoms progress more quickly in teens and kids
-affects one person in every 10,000, or around 30,000 people in the United States
- inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas
-its spelled huntington's disease irl
-]]> 2018-02-21 17:44:14 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879877 cystic fibrosis https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879893 syd. laiba. josh
-Recessive
-One must inherit two copies of the faulty allele to have the disease.
-ratio: 1 in 4 if both parents are carriers
-1 in 2 will be a carrier but no symptoms
-no cure/treatment
-cause: defect mutation
-effect: build up of mucus in the mungs, pancreas, and other organs
-will lead to clogged airways, more infection, lung damage, respiratory failure
-result- chronic death

]]> 2018-02-21 17:44:15 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233879893 Hemophilia https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880121 Omari & Jordan
~ Inability to clot blood or produce coagulate

~Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII.]]> 2018-02-21 17:44:34 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880121 Galactosemis https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880675 2018-02-21 17:45:29 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880675 Galactosemis https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880688 Savannah Alicerose
a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar Galactose properly.
Symptoms of galactosemia are:
  • Convulsions.
  • Irritability.
  • Lethargy.
  • Poor feeding -- baby refuses to eat formula containing milk.
  • Poor weight gain.
  • Yellow skin and whites of the eyes (jaundice)
  • Vomiting.
Excess galactose in the blood affects many parts of the body. Some of the organs that may be affected include the brain, eyes, liver and kidneys. Infants with galactosemia usually have diarrhea and vomiting within a few days of drinking milk or formula containing lactose.
(The allele for normal digestion (G) is dominant; the allele for galactosemia (g) is recessive. )
]]> 2018-02-21 17:45:30 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880688 Achondroplasia https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880697 -dominant
-1 in 25000 in the US
-a gene that affects bone growth is abnormal
-short arms and legs
-large head
-no cure, but treatment can help
-can last for years or be life long
-normally born to parents of average height
-most common form of dwarfism
-can affect all ethnic groups
-single gene disorder on chromosome 4
-normal life expectancy
-hunched back
-misaligned teeth
-pain in the back
-snoring
-difficulty bending elbows]]> 2018-02-21 17:45:31 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233880697 https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233884287 2018-02-21 17:50:50 UTC https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233884287 Marphan’s syndrome https://padlet.com/cappelbaum/gb7gvavja7k6/wish/233884816 Claire
~ Genetic disorder that affects the body’s connective tissue
~also plays an important role in helping the body grow and develop properly.
~ Rare
- Fewer than 200,000 US cases per year
People may experience:
Pain areas: in the back
Heart: mitral valve prolapse or murmur
Mouth: abnormally raised roof of the mouth or crowded teeth
Visual: blurred vision or nearsightedness
Chest: bulging chest or sunken chest
Also common: abnormally long fingers, disproportionately long arms and legs, double jointed, fatigue, flat feet, scoliosis, small pupils, stretch marks, tall and slender build, or collapsed lung
Treatment varies
Treatment includes medications to keep blood pressure low, eyeglasses or contact lenses, and surgery.
Devices
Back brace
A device used to support and stabilize the back. In some cases may be used to correct an abnormal curvature of the spine.
Glasses
A frame worn on the nose that holds a set of lenses to correct vision or protect the eyes.
Contact lenses
A lens placed directly on the eye to correct or assist with vision.





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