4th Period Genetic Disorders by Jessica Cichosz https://padlet.com/cichosz_jessica/ocfkqorg20fx Please create a card with: Your name, genetic disorder, and three facts you've learned about it so far en-us 2018-02-12 17:04:56 UTC 2023-03-15 08:56:23 UTC hello@padlet.com Cri-du-Chat Syndrome cichosz_jessica https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230776391 1. Also known as cat's cry syndrome
2. Individuals have mental retardation and have trouble with language
3. Children and adults with this syndrome are usually very happy and social. ]]> 2018-02-12 19:09:12 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230776391 Sickle Cell Anemia goff_luc000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230806845 1. Turns blood into a sickle shape

2. The mutation is a single point mutation. As in the genetic mutation affects one point in the genetic code.

3. About 100,000 Americans have SCD.]]> 2018-02-12 20:03:55 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230806845 Huntington Disease hervimar002 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807333 1. Affected people have emotional problems and uncontrolled movements
2. Also known as Huntington's Chorea
3. Caused by too many copies of the CAG DNA segment]]> 2018-02-12 20:05:02 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807333 Down Syndrome wheatsyd000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807363 1. There are 3 21st chromosomes.
2. Down Syndrome sometimes leads to poor muscle tone.
3. Some symptoms are physical are brain related. ]]> 2018-02-12 20:05:05 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807363 Carpenter symptom bolsojar001 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807446 1.) Most cases are caused by a mutation in the RAB23 gene.
2.) Effects both male and females equivalently.
3.)More than 70 cases have been recorded.]]> 2018-02-12 20:05:15 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807446 Hypertrichosis kaskiaub000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807583 1. People with this syndrome have excessive hair growth all over their body.
2. It is also called werewolf syndrome.
3. It can be inherited]]> 2018-02-12 20:05:31 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807583 Hemophilia taylodal000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807591 1.Symptoms  include prolonged oozing after injuries, tooth extractions or surgery; renewed bleeding after initial bleeding has stopped; easy or spontaneous bruising; and prolonged bleeding.

2. In both severe hemophilia A and severe hemophilia B, the most frequent symptom is spontaneous joint bleeding. 

3. Hemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity.]]> 2018-02-12 20:05:31 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807591 Marfans Syndrome muonicar005 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807682 -people have long arms, and legs
-poor vision
-They usually die young due to heart problems
 ]]> 2018-02-12 20:05:41 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807682 Duane Syndrome coursoli000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807772 1. The CHN1 gene is affected by this disorder.

2. A factor that may cause it is a disturbance during embryonic development.

3. The female-to-male ratio is 3:2.

]]> 2018-02-12 20:05:51 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807772 Albinism/ Achromasia hayfokil000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807918 1. Everyone with albinism has some sort of vision problem
2.People can be partly albino and just have patches of no/little melanin
3.Some people with albinism have red eyes in certain lighting]]> 2018-02-12 20:06:07 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230807918 Xeroderma pigmentosum johnsfen000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808334 1. their are 8 types
2. some people have to avoid sunlight all together
3. affected people develop scabs and sores when in contact with UV rays.]]> 2018-02-12 20:07:01 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808334 Angleman Syndrome tapanrod000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808431 1.children are often very fascinated with water who have this syndrome.
2.very short attention span and very hyper.
3.very happy people and love to clap and wave thier hands ]]> 2018-02-12 20:07:13 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808431 Cystic Fibrosis kellemat001 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808578 1. Cystic fibrosis causes your body to produce extra thick mucus.
2. This makes it harder to breath.
3. This prevents you from doing any active things.]]> 2018-02-12 20:07:31 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808578 Pancreatic Cancer tannisam000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808662 1. Pancreatic cancer is usually caused when cells in the pancreas begin to multiply out of control and form a mass. 
2. Symptoms of this disorder are mostly jaundice (yellowing of the skin),darker urine, and large lymph nodes from the neck up.
3. About 1.6 percent of men and women will be diagnosed with pancreatic cancer at some point during their lifetime

]]> 2018-02-12 20:07:41 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808662 Progeria muonigin000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808693 1.Children who are diagnosed with Progeria usually die at age 13.
2. One out of 8 million people are affected.
3. The disorder causes pre-mature aging. 

]]> 2018-02-12 20:07:45 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808693 Wilson Disease uskoscon000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808737
  • Fatigue, lack of appetite or abdominal pain
  • A yellowing of the skin and the whites of the eye (jaundice)
  • Golden-brown eye discoloration

    • ]]>     2018-02-12 20:07:50 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808737     Muenke Syndrome fergumat001 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808818 1. The FGFR3 gene is affected by this disorder.
    2. 1 in every 30,000 newborns are affected by this disease.
    3. There are no cures for this disease]]>     2018-02-12 20:08:01 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230808818     Achondroplasia bryangab000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230809082 1. Achondroplasia is the most common form of short-limb dwarfism
    2. Affects about 1 in 25,000 individuals of all ethnic groups.
    3. Achondroplasia can be inherited
    ]]>     2018-02-12 20:08:31 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230809082     Tay-Sachs Disease korpetyl000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230809983 1. it is an inherited metabolic disorder in which certain lipids accumulate in the brain
    2. It can happen to 3-6 month old babys.
    3. They can experience seizures, vision and hearing loss, intellectual disability.

    ]]>     2018-02-12 20:10:18 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230809983     Severe Combined Immunodeficiency. shysheve000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810018 1.  SCID is actually a group of inherited disorders that cause severe abnormalities of the immune system.
    2.  Typically presents in infancy results in profound immune deficiency condition resulting in a weak immune system that is unable to fight off even mild infections.
    3. There are several forms of SCID but the most common type is linked to a problem in a gene on the X chromosome, affecting only males.]]>     2018-02-12 20:10:20 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810018     Spaina bifida grantand000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810176 1. another word for this disease is rachischisis.
    2.Every year 1,500 babies are born with spina bifida in america each year
    3.there is no cure for this disease
     ]]>     2018-02-12 20:10:37 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810176     Fragile X syndrome sarkksve001 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810193 1. There are no cures to this, but special therapy and education can make progress.
    2. It is caused by a mutation;(in this case) and expansion of the FMR1 gene on the X chromosome.
    3.Some symptoms are a long face,feet, and ears. 

    ]]>     2018-02-12 20:10:39 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230810193     Velo-cardio-facial Syndrome shefckyl000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230812020 1. People with VCFS all have similar faces 
    2. as adults people with this illness have a higher chance of developing illnesses like depression, schizophrenia, and anxiety 
    3. The chance of a child inheriting VCFS from their parents is rare. ]]>     2018-02-12 20:13:56 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230812020     maple syrup makarjoh000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230812645 1 People with this condition cannot break down the amino acids leucine, isoleucine, and valine.
    2)inherited disorders  in which the body is not able to produce certain types of  protein building blocks I(amino acids) properly
    3)The urine of people with this condition can smell like maple syrup. this is where it gets its name from ]]>     2018-02-12 20:15:12 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/230812645     prader willi syndrome st_satay000 https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/231271058 1.people with this disease have smaller hands and feet 
    2.People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities.
    3.Puberty is delayed or incomplete, and most affected individuals are unable to have children ]]>     2018-02-13 20:08:04 UTC https://padlet.com/cichosz_jessica/ocfkqorg20fx/wish/231271058