Turner`s Syndrome An Original Presentation from Mrs. Hopper`s 3rd

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
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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
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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
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 finefinger 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
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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 disabilities

 Especially 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 symptoms
 Growth hormone
therapy
 Estrogen/progesterone
replacement
 Close 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
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"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/MGA2-1114_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_he
alth/turner.html>.
Turner Syndrome Society of the US - Welcome. Web. 10
Apr. 2011. <http://www.turnersyndrome.org/>.