CHROMOSOMAL DISORDERS: TRISOMIES AND DELETIONS
“𝓣𝓸 𝓾𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭 𝓽𝓱𝓮 𝓸𝓻𝓰𝓪𝓷𝓲𝓼𝓶, 𝓸𝓷𝓮 𝓶𝓾𝓼𝓽 𝓾𝓷𝓭𝓮𝓻𝓼𝓽𝓪𝓷𝓭 𝓲𝓽𝓼 𝓬𝓱𝓻𝓸𝓶𝓸𝓼𝓸𝓶𝓮𝓼 𝓲𝓷 𝓽𝓱𝓮𝓲𝓻 𝓷𝓸𝓻𝓶𝓪𝓵 𝓼𝓽𝓪𝓽𝓮 𝓪𝓷𝓭 𝔀𝓱𝓮𝓷 𝓻𝓮𝓪𝓻𝓻𝓪𝓷𝓰𝓮𝓭.” - Barbara McClintock 🧬 Chromosomal disorders arise from abnormalities in chromosome number or structure, disrupting gene dosage and developmental pathways. Among them, trisomies & deletions are clinically and biologically significant due to their impact on embryogenesis, neurodevelopment, and long-term health. 🔹 Down syndrome (Trisomy 21) is the most prevalent autosomal trisomy compatible with postnatal survival. It is characterized by intellectual disability, congenital heart defects, endocrine dysfunction, and increased leukemia & early-onset Alzheimer risk. Other severe trisomies include: • Edwards syndrome • Patau syndrome These conditions often result in profound multisystem anomalies & high neonatal mortality. Most trisomies arise from meiotic nondisjun...