The topic Chromosome 22, Inverted Duplication (22pter-22q11) you are seeking is a synonym, or alternative name, or is closely related to the medical condition Cat Eye Syndrome.

Quick Summary:

• Cat Eye Syndrome (CES) is a rare congenital disorder involving chromosomal abnormalities of the 22nd chromosome. In this condition, the long and short arms of chromosome 22 are present 3-4 times rather than twice (like in normal cells)
• This leads to the signs and symptoms such as coloboma, downward slanting eyelid folds, and hearing impairment among others
• Currently, there are no known risk factors for Cat Eye Syndrome, and though CES is a genetic disorder, it is rarely passed down to a child from their parent(s)
• A healthcare provider can diagnose the condition through a physical examination at birth, or using an ultrasound when the fetus is in the womb
• Complications of Cat Eye Syndrome include vision, hearing, and cardiac defects. If left untreated, the condition can lead to a poor prognosis. If treated adequately through surgery and medication, the prognosis can be improved
• No known ways to prevent Cat Eye Syndrome are available at this time. Current medical research is trying to understand the cause of the condition, which can help scientists identify suitable preventative measures

Please find comprehensive information on Cat Eye Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.