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Klinefelter & Down Syndromes

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Brooke Ashcraft

on 9 January 2014

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Transcript of Klinefelter & Down Syndromes

Klinefelter Syndrome and Down Syndrome
Klinefelter Syndrome
A syndrome where males are born with an extra X chromosome.
Down Syndrome
The syndrome that occurs when an extra number 21 chromosome is present.
Distribution through population & Symptoms
1 out of every 800 to 1000 people are born with down syndrome
Distribution in Population & Symptoms
The distribution in the population is between 1 in every 500 to 1000 males.
Mildly impaired IQ
(less than 15% less than average)
Some learning disabilities

Frontal Baldness Absent
Poor Beard Growth
Tendency to lose
chest hair
Female- like pubic
hair pattern
Underdeveloped testes
Less muscular
When is it Diagnosed?
Some are never diagnosed
When trying to reproduce
blood sample
Diagnosis & Treatment
Hormone replacement therapy (testosterone)
Treatment, not a cure
People with Klinefelter Syndrome can live a very normal life! Many men, because of the mild symptoms, are never even diagnosed or treated for the syndrome.
Growth failure & mental retardation
Flattened back of head
abnormal ears
Broad flat face
Slanted eyes
small broad nose
large tongue
dental abnormalities
Short broad hands
big toes, widely spaced
Congenital heart
Deminished muscle tone
Enlarged colon
Abnormal pelvis
intestinal blockage
unilateral or bilateral absence of one rib
umbilical hernia
Diagnosis and Treatments
Screening during pregnancy
At birth
No cure or treatment is currently existing.

Therapy: Physical & Speech
Surgery (if needed)
Support System
Life would be harder for the diagnosed and their family, it would make some daily tasks harder to achieve or to learn. Most people diagnosed with Down Syndrome don't live past age 50.
Work Cited
Full transcript