Overview of Chromosome Disorders

Teja V Surapaneni, MD, MS
YourMD.online
Published in
3 min readSep 9, 2023

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This is an example of a cell in a biological male with 23 pairs of chromosomes, this photo shows 22 pairs of Autosomes and 1 Pair X and Y Sex Chromosome

Chromosome disorders are a group of genetic illnesses that manifest themselves as deviations in either the number of or the structure of an individual’s chromosomes. These conditions can be broken down into three primary categories: numerical disorders, structural disorders, and single-gene conditions. The signs and symptoms of these disorders, as well as the approaches to therapy for them, can differ greatly; the purpose of this article is to provide a general discussion of these disorders.

Disorders Related to the Number of Chromosomes

Down Syndrome

It’s possible that Down Syndrome is the numerical chromosomal issue that’s most widely known. It takes place when there is an additional copy of chromosome 21, which results in their being a total of 47 chromosomes rather than the typical 46. Intellectual difficulty, facial characteristics that are easily recognizable, and a heightened risk for heart defects and other health problems are all symptoms of this condition. Some treatments include, educational support and physical therapy.

Turner Syndrome

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