Podcast
Questions and Answers
What is a chromosomal anomaly?
What is a chromosomal anomaly?
- A missing, extra, or irregular portion of chromosomal DNA (correct)
- A change in a single gene on a chromosome
- An abnormality in the cell membrane
- A normal set of chromosomes
How are chromosome abnormalities broadly classified?
How are chromosome abnormalities broadly classified?
- Structural and numerical (correct)
- Somatic and germline
- Genetic and environmental
- Dominant and recessive
What is a numerical abnormality in chromosomes?
What is a numerical abnormality in chromosomes?
- An abnormality in the number of genes on a chromosome
- A portion of a chromosome that has structural abnormalities
- Entire chromosomes that are missing or more than a normal pair (correct)
- An extra gene on a chromosome
How are chromosome anomalies detected or confirmed?
How are chromosome anomalies detected or confirmed?
When do chromosome anomalies usually occur?
When do chromosome anomalies usually occur?
Study Notes
Chromosomal Anomalies
- A chromosomal anomaly is a change in the number or structure of chromosomes that can affect fetal development and increase the risk of birth defects or miscarriage.
Classification of Chromosome Abnormalities
- Chromosome abnormalities can be broadly classified into two categories: numerical abnormalities and structural abnormalities.
- Numerical abnormalities occur when there is a change in the number of chromosomes, while structural abnormalities occur when there is a change in the structure of a chromosome.
Numerical Abnormalities
- A numerical abnormality in chromosomes occurs when there is an incorrect number of chromosomes, such as having 45,X (Turner syndrome) or 47,XY,+21 (Down syndrome).
- Numerical abnormalities can occur in both autosomal chromosomes (non-sex chromosomes) and sex chromosomes.
Detection of Chromosome Anomalies
- Chromosome anomalies can be detected during prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis, which involve collecting cells from the placenta or amniotic fluid.
- Chromosome anomalies can also be confirmed through karyotyping, a laboratory test that analyzes a sample of blood or tissue to examine chromosomes.
Occurrence of Chromosome Anomalies
- Chromosome anomalies can occur during the formation of gametes (sperm or egg cells) or during early fetal development, increasing the risk of miscarriage or birth defects.
- The risk of chromosome anomalies increases with maternal age, especially after the age of 35.
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Description
Test your knowledge of chromosomal abnormalities with this quiz. Explore the types of abnormalities, including numerical and structural variations, and learn about the causes and implications of these mutations.