Preprint / Version 1

The Difference Between Genetic and Chromosomal Disorders

##article.authors##

  • Ella Hemon Polygence

DOI:

https://doi.org/10.58445/rars.351

Keywords:

genetics, chromosomal disorders, medicine, biology

Abstract

As medical technology and science expand and grow, so does our knowledge of different disorders and treatments, particularly those that have a genetic or chromosomal basis. Genetic disorders are caused by an abnormality in the DNA sequence of essential genes, and can either be inherited or occur randomly. Cystic Fibrosis, which affects 30,000 people in the US alone, is an example of a genetic disorder, and has an average life expectancy of 44 years, provided you can make it to adulthood, due to the buildup of mucus in their lungs that the disorder causes. This is different from chromosomal disorders, which are caused by an abnormality in chromosome number or structure, such as an extra copy of chromosome 21 causing Down Syndrome. Down Syndrome affects 1 in 700 babies, and causes intellectual disabilities, developmental delays, and thyroid or heart disease. Both of these types of disorders are very difficult to live with and emphasize the need for scientific research into new treatments. Treatment options like gene therapy can be used to treat genetic abnormalities by inserting a healthy copy of a gene to cells in our body that carry a mutated version. On another end, new and accurate prenatal tests can help diagnose chromosomal abnormalities earlier in the pregnancy through a simple blood draw. These have revolutionized the field and helped make advancements in how doctors care for people with such disorders, to improve their life. This paper will review various genetic and chromosomal disorders, comparing both the genetic and clinical differences between them. 

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2023-08-19

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