Microdeletion and duplication syndromes are genetic conditions caused by the loss (deletion) or gain (duplication) of small segments of chromosomes. These changes can lead to various developmental and physical anomalies, depending on the specific genes affected.
Common Syndromes Diagnosed:
- DiGeorge Syndrome (22q11.2 deletion): Characterized by heart defects, immune deficiencies, and developmental delays.
- Williams Syndrome (7q11.23 deletion): Features include cardiovascular issues, distinctive facial features, and intellectual disabilities.
- Prader-Willi/Angelman Syndromes (15q11-q13 deletion/duplication): Involves developmental delays, intellectual disabilities, and specific physical characteristics.
In GENETIKS, we use:
- Chromosomal Microarray Analysis (CMA) as the primary test for detecting microdeletions and duplications, it offers high-resolution analysis of chromosomal changes.
and
- Fluorescence In Situ Hybridization (FISH) technique which is a targeted test used when a specific microdeletion or duplication syndrome is suspected.