The 22q11 deletion syndrome (22q11DS), or Velocardiofacial syndrome, is a common genetic
disease caused by deficiency on region 11 on the long arm of chromosome 22. Most patients
(>90%) show a microdeletion usually detectable through fluorescent in situ hybridization
(FISH). Currently, over 180 different findings were described, including physical,
psychological and behavioral abnormalities [
[1]
]. 22q11DS is the second most known cause of congenital heart disease (CHD) [
[2]
]. However, due to difficulties in clinical diagnosis and recognition of 22q11DS, as
well as high costs related to diagnostic techniques such as FISH, different screening
methods have been suggested in populations with CHD. However, their practical application
has been proven non-effective [
[3]
].Keywords
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References
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- 22q11.2 deletion syndrome and congenital heart defects.Rev Paul Pediatr. 2011; 29: 251-260
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- Clinical features and follow-up in patients with 22q11.2 deletion syndrome.J Pediatr. 2014; 164 ([e2]): 1475-1480
- 22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil.Am J Med Genet A. 2008; 146A: 1655-1656
- The prevalence of chromosome 22q11.2 deletions in 2478 children with cardiovascular malformations. A population-based study.Am J Med Genet A. 2012; 158A: 498-508
- Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.Clin Genet. 2009; 76: 465-470
- Prevalence of hypocalcemia and its associated features in 22q11.2 deletion syndrome.Clin Endocrinol. 2014; 81 ([Oxf]): 190-196
- Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome.Eur J Endocrinol. 2011; 165: 345-352
- Anterior laryngeal membrane and 22q11 deletion syndrome.Braz J Otorhinolaryngol. 2011; 77: 540
Article info
Publication history
Published online: October 03, 2014
Accepted:
September 25,
2014
Received:
September 15,
2014
Identification
Copyright
© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
