ACKNOWLEDGEMENT

CERTIFICATE
 MNR SCHOOL OF EXCELLENCE

BIOLOGY INVESTIGATORY PROJECT

CHROMOSOMAL DISORDERS

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CONTENT
 INTRODUCTION
  chromosomes are the organized packages of DNA found inside human body cell.
 The word chromosome comes from the Greek  (chroma, "colour") and  (soma, "body"), describing their strong
staining by particular dyes. The term was coined by the German scientist von Waldeyer - Hartz, referring to the
term chromatin, which was introduced by Walther Flemming, the discoverer of cell division.
 Some of the early karyological terms have become outdated. [For example, Chromatin (Flemming 1880) and
Chromosom (Waldeyer 1888), both discribe color to a non-colored state.
 DNA contains genes that tell your body how to develop and function. Humans have 23 pairs of
chromosomes (46 in total). You inherit one of each chromosome pair from your mother (XX) and the
other from your father (XY).  Autosomes (body chromosome(s)) and allosome (sex chromosome(s))
 These chromosomes display a complex three-dimensional structure, which plays a significant role in 
transcriptional regulation.
STRUCTURE OF CHROMOSOME

 Chromosomes vary in size. Each chromosome has

a centromere, which divides the chromosome into two
uneven sections. The shorter section is called the p arm,
and the longer section is called the q arm.
NOMENCLATURE OF
CHROMOSOME
 Short arm are labelled “p” (petit)
 Long arms are labelled “q” (queue)

 Each chromosome is divided into regions, labelled p1, p2, p3, …and q1, q2, q3…. Counting
outwards from the centromere. Regions are divided into bands and sub bands labelled p11.1,
012.3 p13.5…..
 Centromere is designated ‘cen’ and telomere ‘ten’

 At any gene location:-

 Chromosome number: 1-22
 Chromosome arm: p or q
 Chromosome band: 1-X
Karyotype explanation example
symbol
cen centromere
del deletion 46,XX, del(1q21)
dup duplication 46, XY, dup(13q14)
fra fragile site
i isochrome 46,X,I(Xq)
inv inversion 46,XX,inv(9p12q12)
ish in situ hybridization
r ring chromosome 46,XY,r(21)
t translocation 46,XY,t(2;4)(q21,q21)
ter terminal end Pter or qter
/ mosaicism 46,XY/47,XXY
NORMAL HUMAN CHROMOSOMES
 WHAT IS CHROMOSOMAL DISORDER ?
 A chromosomal disorder occurs when there is change in the number or structure of
chromosome
 This change in the amount , or arrangement of, the genetic information in the cells
result in problems in growth, development and/ or functioning of the body system.
 Chromosome abnormalities usually occur when there is an error in cell division. There
are two kinds of cell division, mitosis and meiosis.
 Mitosis results in two cells that are duplicates of the original cell. One cell with 46
chromosomes divides and becomes two cells with 46 chromosomes each. This kind of
cell division occurs throughout the body, except in the reproductive organs. This is the
way most of the cells that make up our body are made and replaced.
 Meiosis results in cells with half the number of chromosomes, 23, instead of the
normal 46. This is the type of cell division that occurs in the reproductive organs,
resulting in the eggs and sperm.
 TYPES OF ABNORMALITIES
Numerical
These are usually caused by a failure
of chromosome division, which
results in cells with an
extra chromosome or a deficiency
in chromosomes.
 Gametes with these anomalies can
result in conditions such as
Down syndrome (who have
47 chromosomes instead of 46), or
Turner syndrome (45 chromosome
Structural
Structural abnormalities are when
part of an individual chromosome is
missing, extra, switched to
another chromosome, or turned
upside down. 
Chromosomal abnormalities can
occur as an accident when the egg
or the sperm is formed or during the
early developmental stages of the
fetus.
 NUMERICAL ABNORMILITIES

ANEUPLOIDY POLYPLOIDY
 STRUCTURAL ABNORMALITIES

DELETIONS TRANSLOCATION DUPLICATIONS

CHART OF RATE
DOWN SYNDROME
TURNER’S SYNDROME
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 SYMPTOMS
•Abnormally-shaped head
•Below average height
•Cleft lip (openings in the lip or mouth)
•Infertility
•Learning disabilities
•Little to no body hair
•Low birth weight
•Mental and physical impairments
•Defects of the heart, intestines, kidneys, lungs and stomach
•Reduced muscle mass
•Distinctive facial features (widely spaced eyes, small and low ears, drooping eyelids,
flattened facial profile, short neck or upward-angled eyes)
 TREATMENT
As there is no cure for chromosomal disorder but there are following interventions:

Genetic counseling. If testing indicates your child has a chromosomal abnormality,

you will meet with a genetic counselor who will explain the features of the condition,
the short- and long-term features, what interventions may prove helpful and the risk
of recurrence in additional family members.

Occupational therapy. Your child may need help from an occupational therapist to

learn certain skills of daily living, such as getting dressed, bathing, eating and school
-related tasks like writing.

Physical therapy. A physical therapist can help your child learn to build muscle strength,
improve motor skills and accomplish more daily tasks.

Cardiovascular medicines. For some chromosomal conditions, a cardiologist will

prescribe medicines to prevent dilation (enlargement) of your child’s aorta and other
blood vessels.
CONCLUTION
 BIBLOGRAPHY
 https://chromodisorder.org/introduction-to-chromosomes/