Genetics
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Down Syndrome (Trisomy 21): Clinical Features, Diagnosis, and Management
Down syndrome, or trisomy 21, is the most common chromosomal disorder associated with intellectual disability. It results from the presence of additional genetic material from chromosome 21 and produces a characteristic constellation of developmental, cardiovascular, gastrointestinal, endocrine, hematologic, neurologic, and musculoskeletal findings. For medical students and physicians, the key is not simply recognizing the phenotype.…