OVERVIEW OF CYTOGENETICS Flashcards
(16 cards)
What is genetics?
The scientific study of genes, heredity, and variation in living organisms
What does cytogenetics focus on?
The study of chromosomes, their genomic structure, function, variation, abnormalities, and their role in human disease and heredity
What techniques are used in cytogenetics?
Cytogenetic techniques include:
* Karyotyping
* Fluorescent in situ hybridization (FISH)
* Comparative genomic hybridization (CGH)
* Chromosomal microarray analysis (CMA)
What advances have revolutionized cytogenetics?
Advances in molecular biology and genomic technologies, including:
* Next-generation sequencing (NGS)
* Single-cell sequencing
What are the clinical applications of cytogenetic analysis?
Cytogenetic analysis is used to:
* Diagnose genetic disorders
* Evaluate infertility and pregnancy loss
* Guide treatment decisions for certain cancers
What is constitutional cytogenetics?
A branch that analyzes chromosomes in individuals with inherited genetic disorders or birth defects
What is cancer cytogenetics?
A branch that studies chromosomal abnormalities in cancer cells and their role in oncogenesis, tumor progression, and treatment response
Give an example of a condition diagnosed through constitutional cytogenetics.
Down syndrome (trisomy 21)
What is the significance of the Philadelphia chromosome?
It is associated with chronic myeloid leukemia (CML) and is used for diagnosis and treatment decisions
What are somatic mutations?
Mutations that spontaneously arise in any cell in the body except germ cells and are not passed from parent to child
What are germline mutations?
Mutations that exist in the patient’s germ cells and are present in all cells of the body
True or False: Germline mutations can be silent.
True
Fill in the blank: Cytogenetics combines principles of genetics and _______.
cytology
What is the role of cytogenetics in research?
It contributes to understanding chromosomal structure and function, genetic variation, and the molecular basis of disease
What can cytogenetic analysis provide for genetic counseling?
Valuable information for family planning and prenatal screening and diagnosis
What is the importance of cancer cytogenetics?
It provides information for cancer diagnosis, risk stratification, and personalized treatment approaches
