Скачать или смотреть Down Syndrome (Trisomy 21) Animation | Causes, Features & Clinical Insights for NEET PG & USMLE

Down Syndrome (Trisomy 21) Animation | Causes, Features & Clinical Insights for NEET PG & USMLE

Down Syndrome, medically known as Trisomy 21, is a genetic disorder caused by the presence of an extra chromosome 21 🧬. It is the most common chromosomal abnormality and a leading cause of intellectual disability and developmental delay in children 👶. The risk increases with maternal age ⏳, often due to meiotic nondisjunction. Classic clinical features include flat facial profile, upslanting palpebral fissures, epicanthal folds, Brushfield spots in the iris, and a single transverse palmar crease ✋. Associated anomalies include congenital heart defects (especially AV canal defects) ❤️, duodenal atresia, hypothyroidism, hearing loss, and an increased risk of leukemia (especially ALL & AML). Early intervention, cardiac screening, and supportive therapies are essential for better quality of life. Karyotyping confirms the diagnosis, with 95% due to free trisomy, 4% Robertsonian translocation, and 1% mosaicism. Understanding the mechanisms and phenotypic spectrum is crucial for medical students preparing for NEET PG, FMGE, or USMLE. 👩‍⚕️👨‍⚕️

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