3. Introduction
• Chromosomal aberrations refer to any alterations or abnormalities in
the structure or number of chromosomes in a cell. These aberrations
can occur due to errors during DNA replication, exposure to
environmental factors, or other genetic or cellular processes.
Chromosomal aberrations can impact gene expression and cellular
function, and are associated with various diseases including cancer.
Examples of chromosomal aberrations include deletions, duplications,
inversions, and translocations.
4. Types of Chromosomal Aberrations
• Deletions involve the loss of a segment of DNA and can impact gene expression
and cellular function
• Duplications involve the duplication of a segment of DNA and can also impact
gene expression and cellular function
• Inversions and translocations involve the rearrangement of chromosome
segments and can lead to oncogene activation or tumor suppressor gene
inactivation
• Examples of genetic disorders associated with each type of aberration include Cri-
du-chat syndrome, Charcot-Marie-Tooth disease, and hemophilia and cancer
• Chromosomal aberrations can be identified using techniques like cytogenetic
testing and genomic sequencing
• Importance of identifying chromosomal aberrations for cancer diagnosis and
treatment
5. Chromosomal Aberrations and Cancer
• Chromosomal aberrations are linked to cancer development by impacting
gene expression and cellular function
• Oncogene activation or tumor suppressor gene inactivation can lead to
uncontrolled cell growth and tumor formation
• Common chromosomal aberrations found in cancer include deletions and
amplifications of specific genes, translocations, and inversions
• Identifying chromosomal aberrations can aid in cancer diagnosis and
treatment
• Understanding chromosomal aberrations can also help inform the
development of new cancer treatments
• Importance of ongoing research in the field of chromosomal aberrations
and cancer
6. Diagnosing Chromosomal Aberrations
• Techniques used to diagnose chromosomal aberrations include
cytogenetic testing, fluorescence in situ hybridization (FISH), and
genomic sequencing
• Cytogenetic testing involves visualizing chromosomes under a
microscope to identify structural abnormalities
• FISH uses fluorescent probes to identify specific chromosomal
sequences
• Genomic sequencing can identify gene mutations and chromosomal
rearrangements
7.
8. Treatment Options for Chromosomal
Aberrations in Cancer
• Targeted therapies can inhibit oncogene activity or reactivate tumor
suppressor genes affected by chromosomal aberrations
• Chemotherapy and radiation therapy are alternative treatment options
that can also impact gene expression and cellular function
• Treatment plans should be personalized based on specific chromosomal
aberrations identified in each patient
• Targeted therapies have shown promising results in treating certain types
of cancer associated with chromosomal aberrations
• Importance of ongoing research in the development of new targeted
therapies and personalized treatment plans
• Discussion of potential side effects and limitations of current treatment
options
