Kromosomisia
Kromosomisia is the Finnish term for chromosomal disorders, a broad set of genetic conditions caused by abnormalities in chromosomes. These can involve numerical changes (an extra or missing chromosome) or structural changes (deletions, duplications, inversions, or translocations). Abnormalities may occur in sperm or egg or arise during early embryonic development and can be present in all cells or restricted to a mosaic subset. Most cases are de novo, but some are inherited.
Numerical disorders include trisomies such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau
Detection relies on prenatal screening and diagnostic tests, including ultrasound and maternal serum markers, as well
Clinical features range from congenital anomalies and growth delays to neurodevelopmental impairment and fertility issues. Management