Symptoms of Chromosomal Abnormalities A chromosomal abnormality is a genetic mutation that changes the number or structure of chromosomes when cells divide. This condition can cause many different symptoms to be observed. 1. Appearance abnormalities Chromosomal abnormalities can lead to appearance abnormalities. These abnormalities may include short or excessive stature, physical defects such as strabismus, cleft lip, or deformed fingers. These abnormalities may appear early in life, but may also appear in adults. In addition, some chromosomal abnormalities may also lead to problems such as mental retardation and learning difficulties. 2. Growth retardation and chromosomal abnormalities can lead to rapid growth