20q1121

20q1121 is a submicroscopic deletion syndrome characterized by a deletion of a small region on chromosome 20, specifically between the q11.21 and q11.23 bands. This deletion syndrome was first described in 1998 and is estimated to occur in approximately 1 in 5,000 to 1 in 10,000 live births. The syndrome is caused by a microdeletion of about 1.5 megabases, which includes the genes for the transcription factor TBX1 and the homeobox gene HOXA1.

Individuals with 20q1121 deletion syndrome may exhibit a wide range of physical and intellectual disabilities, including cardiac defects, immune system abnormalities, and developmental delays. The severity of symptoms can vary greatly among affected individuals. The diagnosis of 20q1121 deletion syndrome is typically made through genetic testing, such as fluorescence in situ hybridization (FISH) or microarray analysis.

There is no cure for 20q1121 deletion syndrome, and treatment focuses on managing the symptoms and providing supportive care. Early intervention and specialized therapies can help improve the quality of life for individuals with this condition. Research is ongoing to better understand the genetic basis of the syndrome and to develop potential treatments.