Diagnosis often involves genetic testing techniques such as:
Karyotyping: Examines the size, shape, and number of chromosomes in a sample of cells. Fluorescence In Situ Hybridization (FISH): Uses fluorescent probes to detect and locate specific DNA sequences on chromosomes. Amniocentesis: A prenatal test where a small amount of amniotic fluid is sampled to check for chromosomal abnormalities. Chorionic Villus Sampling (CVS): Involves taking a sample of placental tissue to test for genetic disorders.
