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Biomedical Basics

Karyotyping

  • Created by Henry Stewart Talks
Published on January 28, 2026   4 min

A selection of talks on Haematology

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This presentation will examine carriotyping, with a focus on caryotyping as a foundational technique in clinical genetics that visualizes chromosome structure and number to detect abnormalities. We will discuss how chromosomes are prepared, stained, and analyzed to identify conditions like Down syndrome, as well as various structural rearrangements. The lecture will highlight caryotyping's diagnostic importance, sample sources, and interpretation methods, emphasizing its continued relevance despite advances in molecular diagnostics. Caryotyping is a key technique in clinical genetics, letting us visualize and analyze the structure and number of chromosomes in human cells. By preparing and staining chromosomes at metaphase, caryotyping detects numerical and structural abnormalities with major clinical consequences. The human genome has 46 chromosomes in 23 pairs, each with a short arm, P, long arm, Q, centromere, and telomeres. Identifying deviations such as trisomies or structural rearrangements makes caryotyping vital in diagnosing genetic disorders. Forming a caryotype cells are arrested during metaphase when chromosomes are most condensed and visible. These are stained commonly with Gemza to produce distinct G bands, highlighting regions of euchromatin and heterochromatin. This banding helps identify structural anomalies like deletions, duplications or translocations.

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