1. Heather Marra, Hailey Mills, Jackie Evers, and Kristen Swerzenski are proud to present…
Turner’s Syndrome An Original Presentation from Mrs. Hopper’s 3rd Period Class

2. What is Turner’s Syndrome?
Also referred to as Monosomy X
An abnormal genetic condition resulting from a defect on or absence of the second sex chromosome

3. What’s the defect?
Female is missing an X-chromosome

4. Cause The female is born without the second X chromosome
"45X” meaning that an individual has 44 autosomes and a single X chromosome
Multiple blood cells are required to be tested because some cells may carry an X monosomy while others may not

5. KARYOTYPE

6. How does it happen? Usually caused by non-disjunction
Pair of sex chromosomes does not separate during formation of either egg or sperm
When abnormal egg unites with normal sperm to form embryo…
May end up missing that sex chromosome
Be X instead of XX

7. Turner’s syndrome baby

8. Video about Turner’s Syndrome

10. Symptoms Shorter than average/slow growth rate
No growth spurts during puberty
Non-functioning ovaries
No production of estrogen or progesterone
Infertility
Middle Ear infections leading to eventual loss of hearing
Problems with math, memory skills, and fine-finger movements
Discolored spots on skin

11. Symptoms Cont. Wide/webbed neck Low hairline
Broad chest/widely spaced nipples
Arms turned out at elbows
Heart murmur due to narrowing of aorta
High blood pressure
Minor vision issues
Scoliosis
Osteoporosis (thinning of bones) due to lack of estrogen

12. Symptoms Visual

13. Physical Symptoms Short stature (Usually no taller than 4’8”)
Obese weight (due to an underactive thyroid)
Drooping eyelids
Problems with breast development
Short fingers and toes
Extra skin on the neck (webbed neck)
Swelling of the hands and feet
Low set ears
Soft nails that turn upward at the ends
Irregular rotation of wrist and elbow joints

14. Internal Symptoms Loss of ovarian functions (infertility)
Heart defects
Kidney problems
Visual impairments
Ear infections and hearing loss
High blood pressure
Weak bones

15. Mental Symptoms Range of intellectual development usually normal
However, they seem to have difficulty with specific skills
Learning disabilities
Especially in math
Behavioral problems
Problems with concentrating and remembering

16. Diagnosis Women can be amniotic fluid tested while pregnant
If the test returns back to be positive, genetic counseling is recommended
A simple blood test karyotype can determine the diagnosis
Usually diagnosed during infancy but can be diagnosed later in life

17. Statistics It currently affects 60,000 women in the United States
For unknown reasons 98% of Turner Syndrome-afflicted fetuses spontaneously abort, thus making up 10% of all miscarriages
Occurs in about 1/2,000 live female births

18. Effect on Life Women with Turner’s Syndrome lead typical lives
Have normal family relations
Often bullied when young due to appearance
Turner’s Syndrome Support Groups

19. Treatment/Cure No cure for Turner’s Syndrome
Are certain treatments to help with the symptoms
Growth hormone therapy
Estrogen/progesterone replacement
Close heart monitoring for heart problems

20. Remember…
We are all people and we are all different in our own ways. Just because some of us may look or act different in your eyes does not give you the excuse to make fun of them. RESPECT EVERYONE FOR THEIR DIFFERENCES

21. Works cited
"Turner Syndrome Causes, Symptoms, Diagnosis, and Treatment on MedicineNet.com." Web. 10 Apr <
"YouTube - Turner's Syndrome and Me." YouTube - Broadcast Yourself. Web. 10 Apr <
"MGA _Turner." Memorial University. Web. 10 Apr <
"Turner Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 10 Apr <
Turner Syndrome Society of the US - Welcome. Web. 10 Apr <