Microdeletion and duplication syndromes are genetic conditions that result from the loss (deletion) or gain (duplication) of small chromosome segments. Depending on the specific genes affected, these changes can lead to a variety of developmental and physical anomalies.
Common Syndromes Diagnosed
- DiGeorge Syndrome (22q11.2 deletion): Characterized by heart defects, immune deficiencies and developmental delays.
- Williams Syndrome (7q11.23 deletion): Characterized by cardiovascular problems, distinctive facial features and intellectual disability.
- Prader-Willi/Angelman Syndromes (15q11-q13 deletion/duplication): Characterized by developmental delays, intellectual disability and specific physical features.
Methods Used in Diagnosis
- Chromosomal Microarray Analysis (CMA): Used as the primary test; offers high-resolution analysis of chromosomal changes.
- FISH (Fluorescence in situ Hybridization): A targeted test used when a specific microdeletion or duplication syndrome is suspected.