Image for 7q11.23 deletion

7q11.23 deletion

The 7q11.23 deletion refers to a small missing piece of genetic material on chromosome 7, specifically at position q11.23. This deletion can cause Williams syndrome, a developmental disorder characterized by distinctive facial features, heart problems, learning challenges, and unique social personalities. Because that segment of DNA contains important genes, its absence impacts how the body and brain develop, leading to the symptoms associated with the syndrome. The condition is typically present from birth and is diagnosed through genetic testing.