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.

What Is Down's Syndrome? 

Diagnosed intrauterine via Amniocentesis.<ul><li>Upslanting eyes</li><li>Flat face appearance</li><li>Small nose</li><li>Tongue heaviness</li><li>Small hands</li><li>Small ears</li><li>Others- sandle gap, oblique palpebral fissure</li></ul>Some may have intellectual regression, physical/motor delay.

Features To Diagnose

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<ul><li>Hypotonia</li><li>Delayed milestones </li><li>Impaired balance</li><li>Associated with - Congenital Heart Disease, Visual and Hearing Impairment </li><li>High risk- Atlantoaxial subluxation due to lack of neck holding ability </li></ul>

Clinical Findings

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Multidisciplinary approach - <ul><li>Physiotherapy </li><li>Occupational therapy </li><li>Speech therapy </li><li>Special education </li><li>Optometrist, etc</li></ul>

Therapy

<ol><li>Sania Khimji - Crowned Miss India in the special needs category in 2023.</li><li>Tommy Jessop - 1st actor with Down syndrome to play Hamlet.</li><li>Zack Gottsagen - 1st actor with Down syndrome to present an Oscar at the Academy Awards.</li><li>Grace Strobel - 1st American with Down syndrome to represent a major skincare brand.</li><li>Ellie Goldstein - 1st model with Down syndrome to appear in a campaign for Gucci, a luxury fashion brand.</li></ol>& More.. Takeaway - this is not a disorder which will limit you.. with right efforts, motivation and guidance climbing Mt Everest is also possible! ✨

Clinical Findings

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