Turner’s Syndrome An Original Presentation from Mrs. Hopper’s 3 rd Period Class
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Transcript of Turner’s Syndrome An Original Presentation from Mrs. Hopper’s 3 rd Period Class
Heather Marra, Hailey Mills, Jackie Evers, and Kristen Swerzenski are proud to present…
Also referred to as Monosomy X An abnormal genetic condition resulting
from a defect on or absence of the second sex chromosome
Female is missing an X-chromosome
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
Usually caused by non-disjunctionPair 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 chromosomeBe X instead of XX
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
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
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
Loss of ovarian functions (infertility) Heart defects Kidney problems Visual impairments Ear infections and hearing loss High blood pressure Weak bones
Range of intellectual development usually normal
However, they seem to have difficulty with specific skills
Learning disabilitiesEspecially in math
Behavioral problems Problems with concentrating and
remembering
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
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
Women with Turner’s Syndrome lead typical lives
Have normal family relations
Often bullied when young due to appearance
Turner’s Syndrome Support Groups
No cure for Turner’s Syndrome
Are certain treatments to help with the symptomsGrowth hormone therapyEstrogen/progesterone
replacementClose heart monitoring
for heart problems
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
Works cited "Turner Syndrome Causes, Symptoms, Diagnosis, and
Treatment on MedicineNet.com." Web. 10 Apr. 2011. <http://www.medicinenet.com/turner_syndrome/article.htm>.
"YouTube - Turner's Syndrome and Me." YouTube - Broadcast Yourself. Web. 10 Apr. 2011. <http://www.youtube.com/watch?v=FPPbNwvEYg8>.
"MGA2-11-14_Turner." Memorial University. Web. 10 Apr. 2011. <http://www.mun.ca/biology/scarr/MGA2-11-14_Turner.html>.
"Turner Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 10 Apr. 2011. <http://kidshealth.org/teen/diseases_conditions/sexual_health/turner.html>.
Turner Syndrome Society of the US - Welcome. Web. 10 Apr. 2011. <http://www.turnersyndrome.org/>.