22q11.2 deletion syndrome
Updates to Synonym Attributes
Updates to Article Attributes
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was changed:
The 22q11.2 deletion syndrome (also known as the DiGeorge syndrome or velocardiofacial syndrome) is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but recognizablerecognisable pattern of physical and behavioral features.
Epidemiology
The estimated incidence is at ~ 1 in 4000 live pregnancies 4.
Clinical features
- cleft lip +/- palate
- congenital heart disease (particularly conotruncal anomalies): often a major part of this syndrome
- characteristic facies
- elongated face
- long philtrum
- facial asymmetry
- prominent nose
- hypernasal speech
- learning disabilities
- decreased immunity
- malformation of 3rd and 4th pharyngeal pouches that result in defective development of the parathyroid and thymus which can in turn lead to
Pathology
Genetics
There is a near universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. More recently, 22q11 deletions have also been detected in individuals with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.
Associations
EtymologyHistory and etymology
It was first described in 1968 by Angelo DiGeorge.
-<p>The <strong>22q11.2 deletion syndrome </strong>(also known as the <strong>DiGeorge syndrome </strong>or <strong>velocardiofacial syndrome</strong>) is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but recognizable pattern of physical and behavioral features.</p><h4>Epidemiology</h4><p>The estimated incidence is at ~ 1 in 4000 live pregnancies <sup>4</sup>.</p><h4>Clinical features</h4><ul>- +<p>The <strong>22q11.2 deletion syndrome </strong>(also known as the <strong>DiGeorge syndrome </strong>or <strong>velocardiofacial syndrome</strong>) is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but recognisable pattern of physical and behavioral features.</p><h4>Epidemiology</h4><p>The estimated incidence is at ~ 1 in 4000 live pregnancies <sup>4</sup>.</p><h4>Clinical features</h4><ul>
-</ul><h4>Etymology</h4><p>It was first described in 1968 by <strong>Angelo DiGeorge</strong>.</p>- +</ul><h4>History and etymology</h4><p>It was first described in 1968 by <strong>Angelo DiGeorge</strong>.</p>
References changed:
- 5. Driscoll D. Genetic basis of DiGeorge and velocardiofacial syndromes. Current Opinion in Pediatrics. 1994;6(6):702-706. <a href="https://doi.org/10.1097/00008480-199412000-00016">doi:10.1097/00008480-199412000-00016</a>
- 4. Oskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89(2):148-51. <a href="https://doi.org/10.1136/adc.2003.026880">doi:10.1136/adc.2003.026880</a>
- 3. Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatr. 2000;42(3):215-8. <a href="https://www.ncbi.nlm.nih.gov/pubmed/11105620">PMID 11105620</a>
- 5.Driscoll DA. Genetic basis of DiGeorge and velocardiofacial syndromes. Curr. Opin. Pediatr. 1995;6 (6): 702-6. <a href="http://www.ncbi.nlm.nih.gov/pubmed/7849818">Pubmed citation</a><span class="auto"></span>
- 4.Oskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch. Dis. Child. 2004;89 (2): 148-51. <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1719787">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/14736631">Pubmed citation</a><span class="auto"></span>
- 3.Alikaşifoğlu M, Malkoç N, Ceviz N et-al. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk. J. Pediatr. 2000;42 (3): 215-8. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11105620">Pubmed citation</a><span class="auto"></span>
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