Chromosomal Abnormalities

Chromosomal abnormalities are genetic conditions caused by alterations in an individual's chromosome number or structure. These abnormalities can arise during meiosis, leading to conditions such as aneuploidy, where there is an abnormal number of chromosomes, or structural rearrangements like translocations and inversions. A common example is Down syndrome, which is caused by an extra copy of chromosome 21. Chromosomal abnormalities can have profound effects on an individual's development and health, often leading to physical and intellectual disabilities. Understanding the underlying mechanisms and consequences of chromosomal abnormalities is essential for MD students, as these conditions can have significant implications for patient diagnosis, treatment, and genetic counseling.