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Catalog
PPM - 22q11.2 Deletion Syndrome
Introduction and References
Introduction and References
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Pdf Summary
The 22q11.2 deletion syndrome is a common chromosome abnormality, affecting approximately 1 in 4000 individuals. While the condition is associated with various congenital anomalies and health issues, not everyone with the syndrome will have all the features. The most common findings include congenital heart defects, abnormalities of the palate, hypocalcemia, immunological deficiencies, learning disabilities, and characteristic facial features. <br /><br />The syndrome is most commonly caused by a recurrent deletion of a specific region on chromosome 22q11.2, which includes the TBX1 gene. The deletion can be identified using methods such as FISH analysis, MLPA, or chromosomal microarray. However, individuals with atypical deletions or duplications of this region should not be included. It is important to note that FISH analysis does not determine the size of the deletion, so individuals with a positive FISH result may still have deletions that are smaller or larger than the typical deletion.<br /><br />Managing patients with 22q11.2 deletion syndrome requires practical guidelines, as outlined by the International 22q11.2 Deletion Syndrome Consortium. These guidelines are available for both children and adults with the condition. For more detailed information on the syndrome, references are listed for further reading.<br /><br />References:<br />1. Bassett AS, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011; 159:332-339.<br />2. Fung WL, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015 Aug;17(8):599-609.<br />3. McDonald-McGinn DM, et al. 22q11.2 Deletion Syndrome. GeneReviews®. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
Keywords
22q11.2 deletion syndrome
chromosome abnormality
congenital anomalies
congenital heart defects
abnormalities of the palate
hypocalcemia
immunological deficiencies
learning disabilities
TBX1 gene
FISH analysis
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