Chromosomal Abnormalities
Chromosomal abnormalities are changes in the number or structure of chromosomes. They cause a wide range of conditions, from miscarriage to recognizable syndromes.
Table of Contents
Common Types
- Down syndrome (Trisomy 21)
- Turner syndrome (45,X)
- Klinefelter syndrome (47,XXY)
- Trisomy 18 (Edwards), 13 (Patau)
- Translocations, deletions, duplications
Detection
- Prenatal screening (cell-free DNA, ultrasound markers)
- Diagnostic testing (CVS, amniocentesis, karyotype)
- Chromosomal microarray
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.
References
- ACMG. Genetics Resources.