Genetic Disorder Project Bio 101 by Nathaly Sarmiento https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1 By Odin Lightner & Nathaly Sarmiento en-us 2023-03-08 04:26:22 UTC 2023-03-08 19:06:23 UTC hello@padlet.com Support Groups for Turner Syndrome nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508208638 Here is information for support groups for individuals with Turner Syndrome
* Turner Syndrome Society of the United States
- The Turner Syndrome Society of the United States aka known as TSSUS, who identify as a non-profit organization to provide support and resources for the Tuner Syndrome community through their effort nationally and internationally with TS organizations.
* Turner Syndrome Foundation
- The Turner Syndrome Foundation is a board of individuals to provide information and educate through resources and support in their website TurnerSyndromeFoundation.org as well, their outreach programs.]]> 2023-03-08 07:50:51 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508208638 What causes the disorder? What gene or chromosome is affected? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508280263 Turner Syndrome is a chromosomal condition when a female only has 1 X chromosomes, which is not inherited and alters the development in females. In other words, one of the C chromosomes is either fully or partially missing.

The cause is unknown why the X chromosome is not inherited. ]]> 2023-03-08 08:53:05 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508280263 Are there prenatal tests for this disorder? If so, how are they tested? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508292646 Ultrasound is used to check the developing fetus whether it may raise suspicion of the fetus having Turner Syndrome
- A fetus carrying Turner Syndrome is prompted as a high-risk pregnancy because 1 - 3% percent of babies will survive birth

Karyotyping is another prenatal test which is an analysis using Chorionic villus sampling or amniocentesis.

Cell-free fetal DNA testing or noninvasive prenatal screening is used to indicate a risk of Turner Syndrome.]]> 2023-03-08 09:04:11 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508292646 How is the Turner Syndrome diagnosed? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508295698
  • Ultrasound is used to diagnosed to look at the developing fetus. 
  • Karyotyping analysis via blood sample, or Chorionic villus sampling or amniocentesis (pre-birth) 

    • ]]>     2023-03-08 09:06:15 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508295698     How does a person get Turner Syndrome? (Mutation or inherited) nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508297256 Mutation is the answer to why a person result with Turner Syndrome.]]> 2023-03-08 09:07:36 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508297256 What are the symptoms or effects on the individual with Turner Syndrome? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508306574 A person with Turner Syndrome occurs randomly when there is a loss or alteration of the X chromosome from one of the parents.

    Prenatal:
    - Excess fluid collected on the back of the neck or other parts of the body
    - Heart and kidney abnormalities

    At birth or during infancy:
    - Wide or web-like neck
    - Smaller lower jaw
    - High, narrow roof of the mouth
    - Low hairline at the back of the head
    - Ears set a little lower than normal
    - Arms turning outward at the elbows
    - Short fingers and toes
    - Narrow fingernails and toenails that are turned upward
    - Reduced height at birth
    - Delayed growth

    After birth would be short stature, heart defects, ovarian insufficiency to physical characteristics due to missing or changed X chromosome.

    Symptoms noted in older girls, teens, and young women:
    - Short height
    - Delayed or no puberty
    - Absence or menstruation
    - Incomplete sexual developments
    - Leaning disabilities 
    - Problems understanding social situations.
    ]]>     2023-03-08 09:15:25 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508306574     What are some complications of Turner Syndrome? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508311568 High Blood pressure  

    Hearing loss because there is a gradual loss of the nerve function. 

    Infertile is a complication. There are many numbers of women with Turner Syndrome who become pregnant and sometimes with the aid of fertility treatment, but women are infertile.  

    Heart problems such as large blood vessels or abnormalities in the heart structure 

    Learning disabilities especially when there is math or memorization concepts present. ]]>     2023-03-08 09:19:27 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508311568     Are there any treatments or cures? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508318167 Yes, there are treatments for Turner Syndrome. 

    How about a cure? No, there is no known cure for Turner Syndrome.

    The types of treatments are:
    - Estrogen therapy: 
    * Estrogen is known to have an important role in the functioning of the body such as supporting bone health, breast and uterus growth, or cardiovascular protection. 
    * To aid with delayed puberty, estrogen patches are used to increase growth factor levels without causing liver enzyme elevations, resulting in normal uterine and breast development.
    - Growth Treatment:
    * Individuals with Turner Syndrome seek treatment for growth outcomes which vary from age group through an injection to enhance growth hormone support. 
    - Low fat, low carb, and high calcium diet
    - An IVF helps to address fertility issues.]]>     2023-03-08 09:25:07 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508318167     What is the long-term outlook for an individual with Turner Syndrome? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508321317 An individual with Turner Syndrome is the long-term will...

    Mental challenges causing self-esteem problems and depression.
    - Mental impairment varies because some may need aid with everything, and others will do a bit more task by themselves. 

    They will have a shorter life span. 


    There is an emergency card provided by the Turner Syndrome Foundation information provided about the patient and caregivers in case of an emergency. The ECC aka Emergency Contact Card is valuable because individuals diagnosed with Turner Syndrome are at a higher risk than the average population.]]>     2023-03-08 09:27:55 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508321317     What is the status of research with Turner Syndrome? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508325820 Turner Syndrome can be diagnosed, but the exact cause is still unknown. It has been narrowed down to as a random mutation due to one of the X chromosomes is missing or altered.]]> 2023-03-08 09:32:07 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508325820 Name of disorder and any nicknames nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508329951
    Disorder: Turner Syndrome

    Different names for Turner Syndrome:
    - Monosomy X
    - 45, X
    - Ullrich - Turner Syndrome
    - TS]]>     2023-03-08 09:35:50 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508329951     Which population is affected? nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508338103 Females are the affected population for Turner Syndrome.]]> 2023-03-08 09:42:59 UTC https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508338103 Work Cited nathalysarmiento07 https://padlet.com/nathalysarmiento07/tmj6jnvhkhg07xr1/wish/2508361174 “Diagnosing Turner Syndrome.” Turner Syndrome Foundation, turnersyndromefoundation.org/what_is_turner_syndrome/diagnosing/.

    “Emergency Contact Card.” Turner Syndrome Foundation, turnersyndromefoundation.org/what_is_turner_syndrome/heart/emergency-contact-card/. Accessed 8 Mar. 2023.

    “Living.” Turner Syndrome Foundation, turnersyndromefoundation.org/living/.
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    ‌“Sexual Development in Turner Syndrome.” Turner Syndrome Foundation, turnersyndromefoundation.org/what_is_turner_syndrome/sexual-development/.
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    “Symptoms and Causes - Mayo Clinic.” Www.mayoclinic.org, www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782?p=1. 
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    Turner Syndrome Foundation. “Home | Turner Syndrome Foundation.” Turner Syndrome Foundation, 30 Mar. 2020, turnersyndromefoundation.org/. 
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    “The Turner Syndrome Society of the United States.” Turnersyndromemain, 2019, www.turnersyndrome.org/.

    “Turner Syndrome Society of the United States | about Us.” Turner Syndrome, www.turnersyndrome.org/about-tssus.
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    tsfusa. “Mission of Turner Syndrome Foundation.” Turner Syndrome Foundation, turnersyndromefoundation.org/who-we-are/mission/.
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