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What Is Down's Syndrome?
21st Chromosome Trisomy due to non-meiotic dysjunction of a gamete.
What is Trisomy?
Usually, chromosomes are paired. 23 pairs and that is total of 46 chromosomes.
Sometimes, due to non-dysjunction of a gamete, one might get an extra chromosome. That will sum up to 47 chromosomes. And hence called Trisomy.
In Down's Syndrome, the extra chromosome is present on 21st pair.
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Features To Diagnose
Diagnosed intrauterine via Amniocentesis.
- Upslanting eyes
- Flat face appearance
- Small nose
- Tongue heaviness
- Small hands
- Small ears
- Others- sandle gap, oblique palpebral fissure
Some may have intellectual regression, physical/motor delay.
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Clinical Findings
- Hypotonia
- Delayed milestones
- Impaired balance
- Associated with - Congenital Heart Disease, Visual and Hearing Impairment
- High risk- Atlantoaxial subluxation due to lack of neck holding ability
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Therapy
Multidisciplinary approach -
- Physiotherapy
- Occupational therapy
- Speech therapy
- Special education
- Optometrist, etc
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Celebrities With Down's Syndrome
- Sania Khimji - Crowned Miss India in the special needs category in 2023.
- Tommy Jessop - 1st actor with Down syndrome to play Hamlet.
- Zack Gottsagen - 1st actor with Down syndrome to present an Oscar at the Academy Awards.
- Grace Strobel - 1st American with Down syndrome to represent a major skincare brand.
- Ellie Goldstein - 1st model with Down syndrome to appear in a campaign for Gucci, a luxury fashion brand.
& More..
Takeaway - this is not a disorder which will limit you.. with right efforts, motivation and guidance climbing Mt Everest is also possible! β¨
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IDEAS CURATED BY
CURATOR'S NOTE
I have one chromosome more than you... So what?
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