What are Duplications?
A duplication is a chromosomal abnormality where a segment of DNA is copied one or more times, resulting in extra genetic material.
- Small duplications may involve a single gene.
- Large duplications can contain multiple genes, potentially affecting many biological processes.
Key Features
- Can occur on any chromosome and vary in size.
- May be inherited from a parent who is a balanced carrier or arise spontaneously during egg or sperm formation.
- The impact depends on the size and location of the duplicated segment.
Common Health Implications
- Developmental delays and intellectual disabilities
- Physical abnormalities (e.g., facial differences, heart defects)
- Certain syndromes, such as Charcot–Marie–Tooth disease type 1A, MECP2 duplication syndrome, and Pallister–Killian syndrome
How to Reduce the Risk
- Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) during IVF to identify embryos without duplications
- Genetic counseling to understand inheritance patterns and reproductive options
- Prenatal testing (CVS or amniocentesis) for early detection in pregnancy