What Are Some Common Genetic Syndromes and Their Histological Features?
Several genetic syndromes exhibit characteristic histological features:
1. Down Syndrome: This is caused by trisomy 21. Histologically, individuals with Down Syndrome may show anomalies in brain tissue, such as reduced neuronal density and the presence of Alzheimer's disease-like plaques and tangles.
2. Neurofibromatosis: This includes NF1 and NF2, caused by mutations in the NF1 and NF2 genes, respectively. Histologically, these syndromes are characterized by the presence of neurofibromas, which are benign nerve sheath tumors. These tumors show a proliferation of Schwann cells and fibroblasts.
3. Cystic Fibrosis: Caused by mutations in the CFTR gene, this syndrome affects epithelial cells in various organs. Histologically, it is marked by thick, sticky mucus in the respiratory and gastrointestinal tracts, leading to chronic infections and inflammation.
