Chromosome

Arief Budi Yulianti

Department of Medical Biology and Histology
Faculty of Medicine, Bandung Islamic universisty
 CHROMOSOMES

Chromosomes are the factors which distinguish

one species from another.
 Enable transmission of genetic information from
one generation to the next.
The study of chromosomes and cell division is
referred to as cytogenetics
 Chromosome consist of two identical strands
known as chromatids or sister chromatids.
The sister chromatids joined at a constriction
known as centromere
Fig.20.20
Centromere consist of repetitive DNA, are
responsible for movement of chromosomes.

Centromere divides chromosomes into short arms

(p=petite) and into long arms (q= grande).

The tip of each chromosome arms is telomere.

According to the position of the centromere,

chromosomes are clasified a metacentric,
submetacentric and acrocentric.
Metacentric : the centromere is located centraly.
Submetacentric : the centromere is located
between the central and the terminal.
Acrocentric : telomere is located in the terminal.
Sometimes acrosentric have apendages called
satellite.
Satellite consists of very large series of simple
short tandemly repeated DNA sequences which are
transcriptionally inactive.
Satellite are clustered around the centromere of
certain chromosomes.
 CLASSIFICATION OF CHROMOSOMES

Individual chromosomes differ not only in the

position of the centromere but also in their overall
length.
In human the normal cell nucleus contains 46
chromosomes, made up of 22 pairs of autosomes and
single pair of sex chromosomes – XX in the female
and XY in the male.
Individual chromosome subdivided into groups
labeled from A to G. The groups consists of A (1-3)
B (4-5), C (6-12), D (13-15), E (16-18). F (19-20), G
(21-22), X=C, Y=G
 The Sex Chromosome.

 The X and Y chromosomes are known as the sex

chromosome because of their role in sex
determination.
 In humans both the male and female have two sex
chromosomes: XX in female and XY in male.
 The Y chromosome is much smaller then X.
 Each ovum carries an X chromosome, whereas
sperm carries either an X or a Y chromosome.
 An equal chance in X bearing sperm or Y bearing
sperm in fertilizing an ovum.The number of male
and female conception are approximately equal.
Chromosome Aberration
 Chromosomal Abnormalities

 Specific chromosome disorders or aberration can be

divided into numerical and structural.
 Numerical abnormality involve the loss of one or more
chromosomes referred to as aneuploidy.
 The addition of one or more chromosomes referred as
polyploidy.
 Lost of a single chromosome is known as monosomy;
gain of one homolog chromosome is known as trysomy
and gain of two chromosomes is tetrasomy.
 The changes in chromosomes were associated with
phenotypic anomalies, in viability of zygotes or death of
early embryo.
 Numerical abnormality

1.Trisomy

• The present of an extra chromosomes is referred to as

trisomy. Most cases of Down’s syndrome are due to
the present of an additional number 21 chromosomes,
often known as trisomy21.
• Other autosomal trisomy is Patau’s syndrome
(trisomy13) and Edward’s syndrome (trisomy18).
Most other autosomal trisomies results in first
trimester spontaneous miscarriages (trisomy16).
• Trisomy is usually caused by failure of separation of homologous
chromosomes during meiosis. Called nondisjuntion
 Down’s syndrome
 Derives its name from Dr.Langdon Down who first
described.
 The incidence is approximately 1 in 650
 There are extra chromosome of number 21.

This abnormality chromosomes caused by translocation

between 14 and 21.
Caused by non disjunction.
The most explanation is maternal age.
Non disjunction
 Patau’s syndrome

 The incidence of Patau’s syndrome ia approximately 1 :5000

 This syndrome affected infant dying in the first few week of
life.
 90% of all cases of this syndrome caused of cardiac
abnormalities and have a severe mental retardation.
 This syndrome has an associated with an advanced maternal
age.
 Approximately 10% of cases are caused by mosaicism or
unbalanced rearrangements, particularly Robertsonian
translocation.
 Structure Abnormalities

 Structural chromosome rearrangements result from

chromosome breakage with subsequent reunion in
different configuration.
 In balance rearrangements the chromosome
complement is complete with no loss or gain of
genetic material.
 In unbalance rearrangements the chromosomal
complement contains an incorrect amount of
chromosome material.
 Structur Abnormalities

• Translocations Robertsonian

• Deletions
• Duplications
• Ring chromosomes
 Robertsonian Translocations
 Reciprocal translocation is formed when a break
occurs in each of two chromosomes with the
segments being exchanged to form two new
derivative chromosomes or two nonhomologous
chromosomes exchange pieces
 Robertsonian translocation is a particular type of
reciprocal translocation which the break-points are
located at or close the centromeres of two
acrocentric chromosomes
• Translocation does not necessarily cause
abnormal development. Persons with a
translocation between a number 21 and a
number 14 chromosome, are phenotypically
normal. Such persons are called balanced
translocation carriers.
• 3% to 4% of persons with Down syndrome
have translocation trisomies; i.e., the extra 21
chromosome is attached to another
chromosome
 Deletion

 A deletion involves loss of part of a chromosome and

results in monosomy for the segment of the
chromosome.
 The syndrome caused by the deletion chromosomes
described as the Wolf-Hirsch horn and Cri du chat
syndromes which caused by losing of material from
the short arms of chromosomes 4 and 5 respectively.
 In both conditions there are severe mental retardation
 Wolf-Hirsch horn

Cri du chat
• Ring Chromosome

• A ring chromosome is a type of deletion chromosome

from which both ends have been lost, and the broken
ends have rejoined to form a ring-shaped
chromosome. Ring chromosomes are very rare but
they have been found for all chromosomes
 ISOCHROMOSOMES
•The abnormality resulting in these
chromosomes occurs when the centromer
divides transversely instead of
longitudinally.
•An isochromosome is a chromosome in
which one arm is missing and the other
duplicated. It appears to be the most
common structural abnormality of the X
chromosome.