What is 22q11.2 Deletion Syndrome?
22q11.2 Deletion Syndrome is a genetic syndrome. It is the result of a submicroscopic deletion on the long arm of Chromosome 22 in the “q11” region - deletion 22q11.
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22q11.2 DS affects approx. 1 in 1000 - 2000 persons making it the second most prevalent genetic syndrome after Down syndrome, although new research suggests it could affect 1 in 1000 live births. The 22q11.2 Duplication is said to be more prevalent.
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22q11.2 DS is the most common genetic syndrome associated with cleft palates
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65% of patients will have a cleft palate or palate abnormality
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22q11.2 DS is the second most common genetic syndrome associated with congenital heart defects.
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75% of patients will have some form of Congenital Heart Defect, click here for more information
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Research suggest that 90% of the 22q11.2 DS population will have a learning difficulty or disability
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Learning impairments occur for almost all people living with 22q11.2DS, visit our education page to find useful information for schools
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Almost all people with 22q11.2 DS population will experience mental illness issues including anxiety, stress and depression, however this can be managed
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25% of 22q11.2DS patients are said to develop a phychosis, although research suggest this figure may be reducing with early detection due to increased understanding into risk factors
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Nearly half (45%) of the general population (non VCFS/22q11.2DS) in Australia will experience a mental disorder at some stage in their lives.
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22q11.2 DS has more than 180 anomalies associated with it
22q11.2 Deletion Syndrome is also known as:
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VCFS
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DiGeorge Sequence (DGS)
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Shprintzen Syndrome
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CATCH 22
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Conotruncal anomaly face syndrome
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Cayler cardiofacial syndrome.