Chromosomal Abnormalities Explained

Chromosomal deletions, either internal or terminal, lead to unbalanced genetic material and

associated phenotypes. Translocations are structural changes where parts of chromosomes exchange, often without initial

symptoms for carriers. The Philadelphia chromosome, a specific reciprocal translocation between 9 and 22,

causes Chronic Myelogenous Leukaemia. Robertsonian translocations affect acrocentric chromosomes, as seen in

some cases of Down Syndrome (14/21). Automated karyotyping and high-resolution banding reveal these abnormalities for

diagnosis and research.