Cytogenetics focuses on the study of chromosomes and their relationship to disease. Abnormalities in chromosome number or structure are major causes of developmental delays and congenital disabilities.
Aneuploidy: Variations in Number
Aneuploidy occurs when an individual has an abnormal number of chromosomes. The most well-known example is Trisomy 21 (Down Syndrome), where a person has three copies of chromosome 21 instead of two.
Structural Abnormalities
These include deletions (missing pieces), duplications (extra pieces), and translocations (where pieces of two different chromosomes swap places). Translocations are particularly significant in oncology, such as the "Philadelphia Chromosome" associated with chronic myeloid leukemia.
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