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Genetic Disorder

Introduction Genetic disorders occur because of malfunctions and problems in the genome. They can be caused by certain mutations in one gene (monogenic), or in more than a single gene (polygenic). They can also be caused by damage to chromosomes. Genetic disorders can be very serious or even deadly. Some genetic disorders may not be so bad, but they can be rare and difficult to treat. One genetic disorder is called Mosaic Trisomy 22, which is a rare chromosomal disorder.

Types of Genetic Disorders

There are many types of genetic disorders. One important example is single-gene disorders or monogenic disorders. An example of monogenic disorder is Familial hypercholesterolemia. Single-gene disorders are caused by single mutated genes. Single-gene disorders can be passed on to offspring in several ways, for example, genomic imprinting. Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner (Wikipedia, genetic disorder) Another type of genetic disorder is the X-linked dominant disorder. It is caused by mutations in genes in the X chromosomes. It occurs when one allele is sufficient to cause the disorder if the offspring inherited the disorder. Sons get a higher chance to be affected when the mother is affected, while only daughters are affected when the father is affected since sons receive their father’s Y chromosome. Besides X-linked dominant disorders, there are also Y-linked dominant disorders, which is caused by mutations in the Y chromosome. These disorders can only be inherited by males, father to son. Females can never be affected by this disorder because females don’t have Y chromosomes.

Chromosomal Disorders Chromosomal disorders may be rare individual (meaning that a single type chromosomal disorder happens rarely in patients), but together, they are the most common type of genetic disorder. An offspring can inherit chromosomal disorders from its parents or when its genes have certain problems, like a missing, extra, or irregular portion of chromosomal DNA. A chromosome abnormality can be detected by comparing the patient’s full set of chromosomes to a healthy full set of chromosomes during genetic testing. The chromosomes are made of DNA and proteins squeezed together in a structure with each species having its own individual form. Chromosomal disorders and syndromes are often caused by numerical and structural defects in the chromosomes. A good and common example of chromosomal disorder can be Down Syndrome.

Example of Genetic Disorders (Down Syndrome)

There are 6,000 known genetic disorders, and yet scientists are continuing to discover more. One kind of genetic disorder, Down Syndrome (DS), is the most common genetic disorder. It is a chromosomal disorder, due to problems of chromosome 21. This disorder causes learning disabilities, intellectual disability and other neurological dysfunctions, along with some cardiovascular defects. The physical features of Down Syndrome are flat occiput (the back of the skull), broad and short neck, flat face with hypertelorism, (an abnormally large distance between the eyes), prominent epicanthic skin folds (skin fold of the upper eyelid covering the inner corner of the eye. If there are so many genetic disorders around the world, there must be treatments for these disorders. Gene therapy is a form of treatment when a good gene is given to the patient with a genetic disorder. This might fix the problems caused by a bad gene or slow the progress of the disease.

Conclusion There are many types of genetic disorders. There are single-gene disorders, which are caused by single mutated genes. X-linked dominant disorders are caused by problems of the X chromosome. Another type is the Y-linked disorder, which is caused by Y chromosomes abnormalities. A big group of genetic disorder are the chromosomal disorders which is basically disorders that are caused by chromosomes. An example is Down Syndrome, the most common chromosomal disorder. Future research might find more ways of treating genetic disorders and find out more about how certain genetic disorders happen. That might help people who have genetic disorders and now to treat them better.

Abstract: Genetic disorders are problems caused by mutated genes. There are many types of genetic disorders. Chromosomal disorders, single-gene disorders, X-linked dominant disorders, and Y-linked disorders are all important types of genetic disorders. Down Syndrome is a very common chromosomal disorder. Genetic disorders occur worldwide and are important to study in genetics.