A chromosome is a large macromolecule that functions as the structural unit of the genetic material. In eukaryotes, chromosomes are molecules consisting of linear, double-stranded deoxyribonucleic acid (DNA) and associated proteins. In prokaryotes, chromosomes are typically single-stranded, circular molecules. In epidemiology, knowledge of chromosomes is essential because chromosomal abnormalities are a leading cause of human genetic diseases. These abnormalities can include deletions (where part or all of a chromosome is missing), duplications (part or all of a chromosome is duplicated, resulting in excess genetic material), translocations (part of a chromosome is transferred to another chromosome), or inversions (part of the chromosome has detached, ‘flipped over,’ and reattached, resulting in the genetic material being in the wrong order).

The totality of all the chromosomes in an individual ...

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