The document discusses cytogenetics, which involves testing samples of tissue, blood, or bone marrow to look for chromosomal abnormalities including broken, missing, rearranged, or extra chromosomes. Cytogenetic analysis identifies chromosomal changes that may be associated with genetic diseases, cancers, or other conditions. The process of cytogenetic testing involves cell culture, harvesting cells during mitosis, preparing chromosome slides, staining and banding chromosomes, and analyzing the karyotype to identify any abnormalities. Cytogenetics plays a key role in cancer diagnosis, prognosis, and treatment monitoring.

1. Muhammad Jamil
Cytogeneticists

2. 1.Cytogenetic is a branch of pathology and genetics
concerned with the study of normal chromosomes and
chromosome aberrations. Classical cytogenetic allows
microscopic visualization of whole chromosomes in
order to assess their number and structure.
2.The study of chromosomes, which are long strands of
DNA and protein that contain most of the genetic
information in a cell. Cytogenetic.
3.Chromosome Analysis also known as: Conventional,
Standard, Traditional, or High Resolution Cytogenetic,
Karyotyping, G-bands. involves testing samples of
tissue, blood, or bone marrow in a laboratory to look
for changes in chromosomes, including broken, missing,
rearranged, or extra chromosomes.

3.  Cytogenetic involves testing samples of tissue,
blood, or bone marrow in a laboratory to look for
changes in chromosomes, including.
 Broken. (Deletion)
 Missing. (Monosomy)
 Rearranged.(Translocation)
 Extra. (Trisomy)
 Changes in certain chromosomes may be a sign of a
genetic disease or condition or some types of cancer.
 Cytogenetic plays a key role in the detection of
chromosomal abnormalities associated with
malignancies, as well as the characterization of new
alterations that allow more research and increase
knowledge about the genetic aspects of these
diseases.

4.  Chromosomes are thread-like structures
present in the nucleus, which carries genetic
information from one generation to another.
They play a vital role in cell division,
heredity, variation, mutation, repair and
regeneration.
 DNA present on the chromosome not only
carries most of the genetic information but
also controls the hereditary transfer.
Chromosomes are essential for the process
of cell division, replication, division, and
creation of daughter cells.

5. There are four main types of chromosomes:
Metacentric.
Sub metacentric.
Acrocentric.
Telocentric.
Chromosomes are found within the nucleus of
most living cells and consist of DNA that is
tightly wound into thread-like structures.

7.  Each chromosome is divided into two
sections (arms) based on the location of a
narrowing (constriction) called the
centromere. By convention, the
shorter arm is called p, and the longer arm is
called q

8.  There are tow main types of cytogenetics
abnormalities.
 1.Numerical abnormalities.
 2.Structural chromosomal abnormalities.
 Numerical abnormalities for example .
 46,XY,46XX normal mal or female .
 When count is raised or decrease that is
numerical abnormalities.
 47,45 etc. for example Down’s syndrome,
Turner's syndrome.

12.  Structure chromosome abnormalities
 Translocation
 Deletion
 Invertion
 Duplication

18.  The Cell cycle has the following
phases.
I. Interphase.
II. Gap phase(G1)
III. Synthesis phase (S)
IV. Mitotic phase (M)

20.  Mitosis is a continuous process that
usually lasts 1 to 2 hours but for
descriptive purposes it is convenient
to distinguish five distinct stages.
These are
I. Prophase
II. Prometaphase
III. Metaphase
IV. Anaphase and telophase

21.  The chromosomes become aligned along
the equatorial plane or plate of the cell,
where each chromosome is attached to the
centriole by a microtubule forming the
mature spindle.
 At this point the chromosomes are
maximally contracted and therefore , most
easily visible. Each chromosome resembles
the letter X in shape ,as the chromatids of
each chromosome have separated
longitudinally but remain attached at the
centromere.

24. I. Cell culture
II. Colcimed treatment or metaphase
arrest
III. Cell harvesting
IV. Chromosome Preparation on the Slide
V. Ageing of chromosome
VI. Chromosome Banding
VII. Karyotype Analysis or Interpret of
result

25.  Most commonly circulating lymphocytes from
peripheral blood are used.
 Samples for chromosomal analysis can be
prepared relatively easily using.
 Blood.
 Skin.
 Bone marrow.
 Chorionic villi.
 Amniotic fluid.( Aminiocytes)
 Any tissue with living nucleated cells that
undergo division can be used for studying human
chromosomes.

26. 
Chromosomal
syndrome
chromosome
implicated
Problem encountered
Di George syndrome Abnormalities of # 22 Lack of T-Lymphocytes
Non-immune Hydrops 45,X or trisomy 21 Etiology complex?
Mechanism according to
basic cause
Intrauterine growth
retardation
Trisomy 18,4p-,5p-
,most
deletion/duplication
Poor response to PHA
Chromosomal instability
syndrome AT,FA,BS,XP
Chromosomal
breakages
Poor response to mitogen
Roberts syndrome Separation of
centromeric
heterochromatin
Poor response to mitogen
Fetal leukemia Patterns of abnormality
according to type
Altered growth patterns
Severe combined No specific Lake of T/B lymphocytes

27.  Contamination during collection of sample
 Quantity of bone marrow or blood
 Not proper mix the sample
 Low TLC
 Poor response to the mitogen
 Transport issue
 Hemolysis the sample
 During culture contamination

28.  Types of test
 Cytogenetic study test technique different.
 Blood
 Bone marrow
 Cultures
 Correlation with patient
 Treatment of patient

30. A part of chromosome which
is clearly distinguishable
from its adjacent segments
by appearing darker or
lighter with various banding
methods.

32. G-Banding.
R-Banding.
Q-Banding.
C-Banding.

34. • G-banding generally provides high quality
chromosomes analysis with approximately
400-500 bands per haploid set.
• Each of these bands corresponds on
average to approximately 6000-8000
kilobases(kb) of DNA.
• This involves first inhibiting cell division
with an agent such as methotrexate or
thymidine.
• Folic acid or deoxycytidine is added to the
culture medium,releasing the cells into
mitosis.

35. • The next stage in chromosome
analysis involves first counting the
number of chromosomes present in a
specified number of cells,
sometimes referred to as
“Metaphase spreads”.
• The banding pattern of each
chromosome is specific and can be
shown in the form of a stylized ideal
karyotype known as an Idiogram.

50.  Hematologic malignancies are cancers that
affect the blood, bone marrow, and lymph
nodes.
 This classification includes various types of
leukemia.
 ALL
 CLL
 AML
 CML
 Hodgkin’s Lymphoma
 Non Hodgkin’s Lymphoma

51.  Chromosome analysis has become a critical
aspect in the workup of hematopoietic
neoplasms. Information obtained
from cytogenetic studies is used on a clinical
basis for diagnosis and prognosis as well as
a research basis for gene identification and
potential treatment advances.
 Strikingly, cancer cytogenetic not only provides
key information to improve the care of patients
with leukemia and various cancers but also acts
as a guide to identify the genes responsible for
the development of these neoplastic states.

53.  Diagnosis
 Prognosis
 Monitoring the Treatment response
 Remission
 Relapse
 Good prognosis
 Bad prognosis

54. Thank you