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Notes in Down Syndrome

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Published 10/08/2024 Down syndrome is the most common autosomal trisomy and genetic cause of {{c1::severe learning difficulties}}. Incidence is about 1:{{c1::540}} li…
Published 10/08/2024 Diagnosis of Down syndrome is made clinically and confirmed with {{c1::FISH}}.Over 85% of infants with T21 survive to 1 year. CHD is present in roughl…
Published 10/08/2024 T21 is usually due to {{c1::Meiotic non-dysjunction}} (94%), which exponentially increases with maternal age, followed by {{c1::Translocation}} (5%)
Published 10/08/2024 Typical dysmorphic features of Down Syndrome include:Craniofacial:Flat {{c1::occiput & 3rd fontanelle}}Flat {{c1::nasal bridge}}Eyes: {{c1::upslan…
Published 10/08/2024 (Later) Medical problems of children with Down syndrome:Developmental: {{c1::Delayed motor milestones & learning difficulties}}ENT: {{c1::Recurren…
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