Contributing

What is 23q syndrome?

What is 23q syndrome?

Overview. DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.

Is DiGeorge syndrome a mental illness?

DiGeorge syndrome is the highest known genetic risk factor for psychosis, and one of many known genetic risk factors for autism. Between 30 and 40 percent of individuals with the syndrome are diagnosed with a disorder on the autism spectrum, and between 25 and 30 percent are diagnosed with a psychotic disorder.

What does 22q stand for in medical terms?

– Michelle Breedlove Sells. 22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome.

What kind of chromosome is missing in 22q?

“The most common ‘rare’ syndrome you’ve never heard of.”. 22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome.

Are there any medical problems associated with 22q11.2 deletion?

The 22q11.2 deletion is the underlying cause of the medical problems associated with DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome, as well as some of the problems associated with Opitz G/BBB and Cayler cardiofacial syndromes.

What kind of health problems does the 22q family have?

This list includes but is not limited to the following: growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies.