Introduction

Introduction
Chromosomal disorders are typically those

phenotypes that have changed, resulting in
visible alteration caused by genetic inheritance
called imprinting. However, some changes
occur due to inheritance, whereas some occur
in an accident while the reproductive cells are
in early foetal development. There are many
types of disorders affecting different parts or
behaviour of a human.
Chromosomes are usually organised packages
of DNA found in our body; it makes our body
develop and function; typically, humans have
23 chromosomes. Each person inherits one pair
of chromosomes from their mother and one
pair from their father. However, these
chromosomes can vary in size leading to
chromosomal disorders. There are many
different types of chromosomes, mainly sex
chromosomes and autosomal chromosomes;
they are the codes that generally contain a
human’s genetic information.
So, Chromosomal disorders or any syndrome
are usually characteristic of the malformations
of malfunctions in the body that can be seen
physically and mentally occurring due to
abnormal chromosomes in number or
constitution, due to deletion or addition of
genetic codes.
XXX chromosome Disorder
• Trisomy of X or 47, XXX or xxx chromosome disorder
is a sporadic genetic disorder to be found, which can
last for years or life-long
• This genetic disorder is a characteristic of an
additional X chromosome, and individuals are seen
to be taller with this age. However, the
chromosomal change typically causes no physical
features to change
• Most of the females with this genetic disorder have
normal development of sexual reproduction. The
frequency of this disorder occurring is scarce and
happens in only one female among 1000 newborns,
where most cases are not diagnosed
• This triplex syndrome is associated with many
difficulties in speech and language skills. There is
also delayed development of sitting, working, and
other exercises. Behavioural and emotional
difficulties kidney and seizures abnormalities can
also occur
Physical Signs and Symptoms
of Triple X Syndrome
In this disorder, the physical as well as structural changes
which can be noticeable are-
• Being taller than the average height
• Having a weak development of muscles or muscle

tone is called hypotonia
• Persisting of very curved little fingers called

Clinodactyly
• Having widely spaced eyes is also known as

hypertelorism
Finding Triplex Disorder
• Order can be found out by doing a blood test to look
for the extra presence of the X chromosome. This
condition can also be found through a karyotype test
or NIPT test called non-invasive prenatal testing
before birth. In this process, the fluid surrounding
the foetus or on the Placenta or the mother’s blood
is taken and tested to find out
• After birth, the doctors can also diagnose a baby

with a microarray test
•
Treatment
Syndrome of Triple X
Typically there is no cure for the triplex syndrome;
however, treatment for the specific type of symptoms is
proved to be helpful such as;
By regularly visiting doctors
Visits to the doctor can help monitor the child’s
developments, difficulties, disabilities, and health
problems and get treated properly.
Educational and support services
These types of services must be designed to help these
specially-abled children with this type of disorder get
educated.
Counselling
This service can help the children understand their
emotional and behavioural difficulties such as anxiety
and depression and help them understand how to live a
productive life.
Klinefelter Syndrome
• Chromosomal abnormalities XXY or Klinefelter
syndrome is another one of the rare genetic
disorders which can be found
• This condition is a medical condition that can be
found in men, affecting their physical and
intellectual or mental development
• In most cases, the affected individual is taller than
the average height. This syndrome is not inherited
and the addition of an extra chromosome during the
formation of reproductive cells
• This can be found in only one in 650 newborn boys;
it is one of the most common sex chromosome
disorders where the changes are occurred due to the
different number of chromosomes
• Different disabilities persist with this syndrome, such
as depression, anxiety, lack of critical social skills,
behaviour and emotional problems, hyperactivity,
and an Autism spectrum disorder
•
Edward’s Syndrome
• Edwards syndrome is marked by low birth weight and certain abnormal
features
• These include a small, abnormally shaped head, a small jaw, and a mouth—
clenched fists with overlapping fingers. And heart, lung, kidney, intestine,
and stomach defects
Turner’s Syndrome
• Turner’s syndrome is a genetic disorder caused due to monosomy of the X
chromosome
• It is caused due to non-disjunction of sex chromosomes which takes place
during gamete formation
• The chromosomal complement of Turner’s syndrome is 44+XO, having a
total of 45 chromosomes
• It was first described by H.H Turner
• The Major Symptoms of Turner’s syndrome are Female phenotype, Short
stature, low posterior hairline, Secondary sexual characters, failure to
develop, and Mental retardation
Down’s Syndrome
• This condition occurs when there is one extra copy of chromosome 21 in
cells in the body
• It is characterised by severe mental retardation, defective development of
the central nervous system, increased separation between the eyes,
flattened nose, malformed ears, the mouth is constantly open, and the
tongue protruding
• Down syndrome was first described by Dr John Langdon Down in 1866
Aneuploidy, Polyploidy and
Euploidy
Aneuploidy is a phenomenon that occurs due to nondisjunction, resulting in the
gain or loss of one or more chromosomes during meiosis.
Polyploidy is a phenomenon in which the organisms contain more than two
monoploid values or basic sets of chromosomes, i.e., -3n, 4netc.
Euploidy is obtaining or having one or more complete sets of chromosomes.
Haploid and Diploid Cells

A haploid or monoploid is a cell or organism that has just a single copy of each
chromosome. Human eggs and sperms are examples.
Diploid is a cell or organism that has paired or two sets of chromosomes, one
from each parent.
Physical signs & symptoms of an XXY chromosome disorder
In this XXY chromosome disorder, the physical as well as structural changes which
can be noticeable are-
• Affected testicular growth
• Testicles smaller than the standard size
• Reduced muscle tone
• Reduction of body and facial hair
• Enlarged breast tissue
Finding out Chromosomal
Abnormalities XXY
The doctor can diagnose this syndrome, starting with the physical test to learn
about general health symptoms.
Then the doctors mainly conduct two types of tests: the chromosome analysis
tests, also called the karyotype analysis test, where a blood test is taken to screen
the chromosomes. Then there is a hormone test used to check the hormone
levels in the blood or urine.
Treatment of Disorder
Although there is no specific type of treatment to ultimately a hormone test used
to check to cure a child with this syndrome, there are many ways and treatments
to minimise the effects.
1. Testosterone replacement therapy- This is one of the most common types

of therapy to cure this syndrome. This therapy, although it does not
improve infertility but helps in stimulating different types of physical
changes in puberty.
2. Plastic surgery: This method can be used in reducing breast tissue sizes.
3. Educational and support services: This type of support helps the affected
with Speech and physical therapy and helps them improve their social skills.
Conclusion
Although curing chromosomal disorders is not easy, it is never too late
to do treatments to minimise the effects. Both the two syndromes
included in this article are caused due to an addition of an X-
chromosome. However, many such abnormalities occur due to the
deletion or addition of chromosomes.

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Introduction

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Introduction

Chromosomal disorders are typically those

• Having a weak development of muscles or muscle

• Persisting of very curved little fingers called

• Having widely spaced eyes is also known as

• After birth, the doctors can also diagnose a baby

Haploid and Diploid Cells

1. Testosterone replacement therapy- This is one of the most common types

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