Down's Syndrome: Causes, Chromosomal Analysis, and Gene Mutation

Running head: DOWN’S SYNDROME
DOWN’S SYNDROME
Name of the disorder:
Name of the university:
Author note:

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DOWN’S SYNDROME
Executive summary:
Down syndrome is a genetic disorder which is mainly acquired but not inherited from
parents or families. It is important for healthcare professionals to be knowledgeable about the
chromosomal aberrations and mutations that take place in the individuals so that they can follow
the correct treatment procedure. This assignment would provide a detailed insight into the
disorder of Down syndrome depicting the ways how chromosomal aberrations result in
occurrence of the syndrome.

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DOWN’S SYNDROME
Contents
Introduction:....................................................................................................................................2
Chromosomal analysis:....................................................................................................................3
Causes of the disorder:.....................................................................................................................3
Origin of the disorder and considerations for practice and patient education:................................4
Gene mutation of the disorder and the way it occurs:.....................................................................6
Conclusion:......................................................................................................................................7
References:......................................................................................................................................8

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DOWN’S SYNDROME
Introduction:
Down syndrome is a genetic disorder that takes place mainly due to chromosomal
aberrations. This assignment would mainly comprise of the detailed aspects of chromosomal
analysis of the disorder as well as causes of the disorder. This would also contain the origin of
the disorder as well as the detailed mutations that take place
Chromosomal analysis:
Chromosomal analysis as well as karyotyping can be explained as the test that helps in
evaluating the number as well as the structure of the chromosome of the person for detecting
abnormalities. Chromosomes are thread like structures that remain present within the nucleus of
each cell and contain the genetic blueprint of the body. Each of the chromosomes is seen to
contain thousands of genes in their specific locations and is responsible for the inherited physical
characteristics with profound impact on growth, function and development. Humans are seen to
have 46 chromosomes that are present as 23 pairs. 22 pairs are present in all sexes called
autosomes and one pair is present as either XX in males or XY in males and is called sex
chromosomes (Antonarakis, 2017). All the cells of the body under normal conditions contain the
46 chromosomes except for the reproductive cells like the sperm and eggs that have sets of 23.a
chromosomal karyotyping is the process that helps in examining the chromosomes of the person
for determining if the correct number is present and to find out if each of the chromosomes are
normal or not. When similar testing was conducted in case of the concerned client it was found
that the patient had an extra copy of chromosome 21 in almost all the cells of the body.
Therefore, it was confirmed that the patient was suffering from Down syndrome only.