Proximal 18q-

Proximal 18q- is a genetic condition characterized by the deletion of a portion of the long arm of one of the two copies of chromosome 18, near the center of the chromosome. This deletion can lead to various health and developmental concerns. The symptoms and severity vary among individuals, but common issues include developmental delays, heart defects, seizures, and kidney problems. Diagnosis typically occurs in infants or children showing health and developmental issues and is confirmed through blood tests. The Chromosome 18 Registry & Research Society provides comprehensive support and resources for families affected by this condition. 

For detailed information about Proximal 18q-, please refer to the information provided in the  Proximal 18q- (English) or  Proximal 18q- (Spanish) handouts that are downloadable and printable items.