Running head: CHROMOSOMAL ABNORMALITIES 1

Chromosomal Abnormalities and Detection MethodsMcKenzie Kearl

Salt Lake Community College

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Abstract

This research will consist of information regarding chromosomal disorders and the treatments

available to individuals. These disorders occur during the process of meiosis and can cause

physical and cognitive concerns. The articles reviewed go into much detail on chromosomes and

how they cause specific abnormalities within the body and detection methods that are available

to the public.

Keywords: chromosome, abnormality

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Chromosomal Abnormalities and Detection Methods

In 1842 a Swiss Botanist Karl Wilhelm von Nageli discovered chromosomes. Since then

they have been studied throughout the decades. Chromosomes are small structures that contain

genes and traits. Humans have 23 pairs of chromosomes and 46 in total. Receiving 23 from the

mother with two X chromosomes and 23 from the father with an X and Y chromosome. 22 of the

pairs are called autosomes while the 23rd pair is the sex chromosomes that will determine the

gender of a fetus. These gene carries are housed in the nucleolus of a cell in the body and form

traits such as hair and eye color. Upon these pairs of genes there are some situations that create

abnormalities to form. These can cause a physical and cognitive alteration and impact on the

body.

Chromosomal disorders occur during cell division and meiosis. Chromosomes go through

a process in which cells are split and the chromatin are duplicated. During this process some

interferences can creates defects. When the structure of the chromosome is altered, we then see

abnormalities begin to occur. Deletion is when a cell goes through meiosis and portions of the

chromosome are lost in the process. Inversion is when parts are flipped. Translocation is parts of

the chromosomes sticking together and switching. Non-disjunction is when a chromosome does

not separate properly during meiosis. These interferences then result in a chromosomal disorder.

Types of Disorders

There are many genetic disorders that occur during cell division in meiosis and mitosis.

One of the most widely known is that of Down syndrome or trisomy 21. This genetic

abnormality takes place on the 21st autosomal chromosome pair. Most incidences of Down

syndrome are a consequence of a nondisjunction during meiosis (Courtney, 2017). This is when a

chromosome migrates too soon and results in an extra copy of chromosome 21 before the
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chromatin separate properly (Courtney, 2017). A professor by the name of Jerome Lejeune

discovered trisomy 21 during his research in 1958. He dedicated most of his life to developing

more information on Down syndrome. After his discovery his research was used in the treatment

and detection of trisomy 21, yet no cure has been found.

Another of the more common abnormalities is Klinefelter syndrome. This is a

chromosomal disorder affecting only males and causing infertility and feminized appearance

(Matzen, 2017). This occurs on the 23rd pair of chromosomes which are the sex-linked

chromatin. A child born with Klinefelter syndrome experience learning and speech difficulties.

Like Down syndrome this is a genetic disorder that has no cure, but therapy is an option.

Some of the less common genetic disorders include Patau’s Trisomy syndrome or trisomy

13, which is similar to Down syndrome in that there is an extra copy of chromosomes but in this

case, it occurs on the 13th chromosome pair. This occurs in nearly 1 out of 5,000 births and

survival beyond the first year is rare (Knight, 2017). Prader-Willi syndrome, which is caused by

a deletion in chromosome 15. This occurs in one in 12,000-15,000 births in both genders

(Schongar, 2017). Some symptoms include poor motor development, behavioral disorders and

obesity. This is a lifelong disability that may include treatments and therapy but there is no cure

available.

Detection Methods and Treatments

A majority of these and many more genetic disorders there are no cure available and

depending on the severity, quality of life can be low although, there is treatment and therapy

options for those who obtain the disorders. Looking back at Down syndrome there are options

for early detection of the chromosomal disorder. Amniocentesis and karyotyping are some
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options for prenatal diagnosis. The most common stated above is Amniocentesis, this is when

amniotic fluid is taken around the fetus and tested (Courtney, 2017). Karyotyping is another

major detection method. “This is the mapping of chromosomes to identify extra, missing or

abnormal chromosomes” (Klose, 2018). During the procedure white blood cells are extracted and

sent through a process that influences mitosis. Once the cells are at their most visible stage the

treatment is ended and the cells are then stained and rearranged into pairs and sent to expert to

study the chromosomes. This process is highly useful in detecting Down syndrome and

Klinefelter syndrome (Klose, 2018).

When considering Patau syndrome in its severity due to heart, brain and kidney defects

there is not much available in treatment options. Surgery can be done to help repair any heart

defects which may elongate life expectancy although it is still unlikely that the child will survive

to an extended period.

Among those who’s disorders carry a longer life expectancy often look to therapy as a

resource. Those with Down syndrome, Klinefelter syndrome and Prader-Willi syndrome as well

as many other abnormalities not stated above, utilize therapy services. Mental, educational and

physical are all options that will allow those with these disabilities maintain their quality of life

and gain more independence. In the case of Prader-Willi syndrome there is a health concern

surround obesity due to the inability to control their craving and eating habits. In this case dietary

restrictions are put into place (Schongar, 2017).

Considering the feminized appearance an individual with Klinefelter syndrome may have

many patients go through hormone therapy to increase the male physical features and

development. This will in turn assist with muscle build and hair growth but will not rid of any

breast tissue growth or sterility (Matzen, 2017).

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“There is a one in three chance that offspring without Down syndrome will be carriers of

the syndrome” (Courtney, 2017).

It is recommended that those with the pre-existing chance of carrying genetic defects go

through the screening process. These genetic disabilities have the potential to be passed on.

Future Research

There has been a lot of research conducted regarding chromosomes and their potential

defects. It has become clear that a majority of them are incurable and therefore any future

research or investigations are limited. However, there is still much that can be done in order to

enhance lifespan and cognition. Physical and psychological assistance to those with

chromosomal abnormalities can help maintain a healthy lifestyle. There is also continual

development on drug therapy studies in which vaccinations, antibiotics and cognitive

medications have the ability to enhance the life of those who are diagnosed with chromosomal

disorders.

Conclusions

Chromosomal abnormalities effect a large number of individuals yearly. Among many

that occur there is no cure although therapy is available. There are screenings such as

karyotyping and amniocentesis that will help to detect whether or not a fetus has a chromosomal

disorder present. This is highly recommended for those who have the potential to carriers of the

disorders. Over the years there has been a large amount of data found surrounding chromosomes

and their disorders. Due to the lack of available cures future studies are limited, yet there is room

for cognitive and psychological studies to be further examined.

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References

Courtney, A. R. (2017). Down Syndrome. Retrieved December 7, 2018, from

https://libprox1.slcc.edu/login?url=http://search.ebscohost.com/login.aspx?direct&db=ers

&AN=86194063&site=eds-live

Klose, R. T. (2018). Karyotyping. Retrieved December 7, 2018, from

https://libprox1.slcc.edu/login?url=http://search.ebscohost.com/login.aspx?direct&db=ers

&AN=87690558&site=eds-live

Knight, J. A. (2017). Patau syndrome. Retrieved December 7, 2018, from

https://libprox1.slcc.edu/login?url=http://search.ebscohost.com/login.aspx?direct&db=ers

&AN=94416631&site=eds-live

Matzen, G. D. (2017). Klinefelter syndrome. Retrieved December 7, 2018, from

https://libprox1.slcc.edu/login?url=http://search.ebscohost.com/login.aspx?direct&db=ers

&AN=86194238&site=eds-live

Schongar, K. (2017). Prader-Willi syndrome. Retrieved December 7, 2018, from

https://libprox1.slcc.edu/login?url=http://search.ebscohost.com/login.aspx?direct&db=ers

&AN=86194498&site=eds-live