BIOLOGY PROJECT

CHROMOSOMAL
DISORDER

DONE BY:
ARUN KUMAR.A
XII-A

INDEX
S.N CONTENT PG.N
O O
1 INTRODUCTION
2 TYPES OF CHOMOSOMAL
DISORDER
3 EXAMPLES
4 DETAILS OF DISORDER
5 INHERITED
CHOMOSOMAL DISORDER
6 SIGNS AND SYYMPTOMS
7 CAUSES CHROMOSOMAL
DISORDER
8 CONCLUSION
9 SOURCE
CONTENTS

INTRODUCTION
TYPES OF CHOMOSOMAL DISORDER
EXAMPLES
DETAILS OF DISORDER
 INHERITED CHROMOSOME
DISORDERS
SIGNS AND SYMPTOMS
CAUSES CHROMOSOMAL DISORDER
CONCLUSION

INTRODUCTION:
Chromosomal disorder, any syndrome characterized by malformations
or malfunctions in any of the body’s systems, and caused by
abnormal chromosome number or constitution.

Normally, humans have 46 chromosomes arranged in 23 pairs; the

pairs vary in size and shape and are numbered by convention. Twenty-
two of the pairs are autosomes, and one pair, number 23, is the sex
chromosomes. Any variation from this pattern causes abnormalities.
A chromosome from any of the pairs may be duplicated (trisomy) or
absent (monosomy); an entire set of 23 chromosome pairs can be
duplicated three (triploidy) or more (polyploidy) times; or one arm or
part of one arm of a single chromosome may be missing (deletion).

Part of one chromosome may be transferred to another

(translocation), which has no effect on the person in which it occurs but
generally causes a deletion or duplication syndrome in his or her
children. Changes in chromosome number occur during sperm or egg
formation or in the early development of the embryo.

In the latter case, a mixture of cells, some normal (euploid) and some
containing abnormal chromosome complements, may occur, a condition
known as mosaicism. In either case, abnormalities of development occur
because of the unusual genetic signals transmitted by the chromosomes.
Some one of these chromosome imbalances occurs in 0.5 percent of all
births.

Types of Chromosomal Disorders

A chromosomal abnormality may be numerical or structural and
examples are described below:

Numerical abnormalities
The normal human chromosome contains 23 pairs of
chromosomes, giving a total of 46 chromosomes in each cell, called
diploid cells. A normal sperm or egg cell contains only one half of these
pairs and therefore 23 chromosomes. These cells are called haploid.

The euploid state describes when the number of chromosomes in each

cell is some multiple of n, which may be 2n (46, diploid), 3n (69,
triploid) 4n (92, tetraploid) and so on. When chromosomes are present in
multiples beyond 4n, the term polyploid is used.

Aneuploidy refers to the presence of an extra chromosome or a missing

chromosome and is the most common form of chromosomal
abnormality. In the case of Down's syndrome or Trisomy 21, there is an
additional copy of chromosome 21 and therefore 47chromosomes.
Turner's syndrome on the other hand arises from the absence of an X
chromosome, meaning only 45 chromosomes are present.

Occasionally, aneuploid and regular diploid cells exist

simultaneously and this is called mosaicism. The condition involves two
or more different cell populations from a single fertilized egg.
Mosaicism usually involves the sex chromosomes, although it can
involve autosomal chromosomes. In contrast to mosaicism, a condition
called chimaerism occurs when different cell lines derived from more
than one fertilized egg are involved.

Structural abnormalities
Structural abnormalities occur when the chromosomal morphology is
altered due to an unusual location of the centromere and therefore
abnormal lengths of the chromosome's short (p) and long arm (q).
 If the centromere is in the middle of the chromosome and the arms
are about the same length, the chromosome is called metacentric. If
the centromere is near to one end and the arms are unequal in
length, the chromosome is called submetacentric. When the
centromere is so close to one end that the short arm is very small,
the chromosome is said to be acrocentric. Another abnormality is
the presence of two centromeres, when chromosomes are called
dicentric, and when there is no centromere at all, it is referred to as
acentric.
 In chromosomal analysis, chromosomes are stained to produce
banding patterns that can be used to detect any alteration of
structural arrangements within or between chromosomes. This may
involve chromosomal breakage and rearrangement within the
chromosome or with two or more other chromosomes. This can
result in an unbalanced karyotype if chromosomal material is
gained (insertion mutation) or lost (deletion mutation) during the
process.
 When a chromosome breaks and unites with one or more other
chromosome, this is called translocation. For example, the
chromosomal translocation 9:22 means a part of the chromosome 9
was detached and then reattached to chromosome 22. This is called
a Philadelphia chromosome and its presence increases the risk of
developing chronic leukemias.
Examples of chromosomal disorders

Some of the most common chromosomal abnormalities include:

 Down's syndrome or trisomy 21
 Edward's syndrome or trisomy 18
 Patau syndrome or trisomy 13
 Cri du chat syndrome or 5p minus syndrome (partial deletion
of short arm of chromosome 5)
 Wolf-Hirschhorn syndrome or deletion 4p syndrome
 Jacobsen syndrome or 11q deletion disorder
 Klinefelter's syndrome or presence of additional X
chromosome in males
 Turner syndrome or presence of only a single X chromosome
in female
 XYY syndrome and XXX syndrome

Details of such disorders

 Down Syndrome
This particular chromosomal abnormality occurs due to an
additional chromosome 21, which in turn occurred due to abnormal cell
division. In a broader sense, it can be divided into three types –
translocation, trisomy 21 and mosaicism.

It tends to hamper the physical characteristics and cognitive

development in individuals. Also, the most noticeable symptoms of
Down syndrome include small height, short neck, low muscle tone, eyes
which slant upwards, etc.

 Turner Syndrome
 In this case, there is one X chromosome absent in females which
decreases the chromosome count to 45 instead of 46. The prevalent
symptoms of turner syndrome include sterility and absence of secondary
sexual traits.

Other than that, heart disorders, high blood pressure, skeletal

abnormalities and kidney ailments are other prominent indicators of
turner syndrome.
  Klinefelter syndrome
An extra X chromosome in males is the reason behind the
occurrence of Klinefelter. Owing to this, the chromosome count stands
at 47 instead of the standard 46. This chromosomal aberration tends to
manifest in males in the form of absent or delayed puberty, sterility,
development of breast, etc.  It is also said to affect the intellectual
development in males. 

chromosome disorders be inherited

 Although it is possible to inherit some types of chromosomal
abnormalities, most chromosomal disorders (such as Down
syndrome and Turner syndrome) are not passed from one generation to
the next.

Some chromosomal conditions are caused by changes in

the number of chromosomes. These changes are not inherited, but occur
as random events during the formation of reproductive cells (eggs and
sperm). An error in cell division called nondisjunction results in
reproductive cells with an abnormal number of chromosomes. For
example, a reproductive cell may accidentally gain or lose one copy of a
chromosome. If one of these atypical reproductive cells contributes to
the genetic makeup of a child, the child will have an extra or missing
chromosome in each of the body’s cells.

Changes in chromosome structure can also cause chromosomal

disorders. Some changes in chromosome structure can be inherited,
while others occur as random accidents during the formation of
reproductive cells or in early fetal development. Because the inheritance
of these changes can be complex, people concerned about this type of
chromosomal abnormality may want to talk with genetics professional.
Some cancer cells also have changes in the number or structure of their
chromosomes. Because these changes occur in somatic cells (cells other
than eggs and sperm), they cannot be passed from one generation to the
next.

signs and symptoms of chromosome disorder

In general, the effects of rare chromosome disorders vary. With a
loss or gain of chromosomal material, symptoms might include a
combination of physical problems, health problems, learning difficulties
and challenging behavior.

The symptoms depend on which parts of which chromosomes are

involved. The loss of a segment of a chromosome is usually more
serious than having an extra copy of the same segment. This is because
when you lose a segment of a chromosome, you may be losing one copy
of an important gene that your body needs to function.
 There are general characteristics of rare chromosomal disorders
that occur to varying degrees in most affected people. For instance, some
degree of learning disability and/or developmental delay will occur in
most people with any loss or gain of material from chromosomes 1
through 22. This is because there are many genes located across all of
these chromosomes that provide instructions for normal development
and function of the brain. Health providers can examine the chromosome
to see where there is a break.
Then they can look at what genes may be involved at the site of the
break. Knowing the gene involved can sometimes, but not always, help
to predict signs and symptoms. 

Causes of chromosomal disorders

The exact cause is unknown, but we know that chromosome
abnormalities usually occur when a cell divides in two (a normal
process that a cell goes through). Sometimes chromosome
abnormalities happen during the development of an egg or sperm
cell (called germline), and other times they happen after
conception (called somatic). In the process of cell division, the
correct number of chromosomes is supposed to end up in the
resulting cells.
Chromosome abnormalities often happen due to one or more of
these:
  Errors during dividing of sex cells (meiosis)
 Errors during dividing of other cells (mitosis)
 Exposure to substances that cause birth defects (teratogens)

Conclusion:
Detection of chromosomal abnormalities in spontaneous abortion
materials is very important to clarify the causes of loss of
pregnancy. Detection of structural chromosomal abnormalities in the
cases and their carrier parents can provide proper genetic counseling

these families.

SOURCE:
HTTPS://RAREDISEASES.INFO.NIH.GOV/GUIDES/PAGES/73/FAQS-ABOUT-CHROMOSOME-
DISORDERS

HTTPS://MEDLINEPLUS.GOV/GENETICS/UNDERSTANDING/INHERITANCE/
CHROMOSOMALINHERITANCE/