22q11.2 deletion syndrome epidemiology and demographics: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence and Prevalence=== | ||
22q11.2 deletion syndrome affects an estimated 25 in 100,000 live births <ref name="pmid14736631">{{cite journal |author=Oskarsdóttir S, Vujic M, Fasth A |title=Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden |journal=Arch. Dis. Child. |volume=89 |issue=2 |pages=148–51 |year=2004 |month=February |pmid=14736631 |pmc=1719787 |doi= |url=}}</ref>. The condition may be more common, however, because some people with the deletion have few signs and symptoms and may not have been diagnosed. | 22q11.2 deletion syndrome affects an estimated 25 in 100,000 live births <ref name="pmid14736631">{{cite journal |author=Oskarsdóttir S, Vujic M, Fasth A |title=Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden |journal=Arch. Dis. Child. |volume=89 |issue=2 |pages=148–51 |year=2004 |month=February |pmid=14736631 |pmc=1719787 |doi= |url=}}</ref>. The condition may be more common, however, because some people with the deletion have few signs and symptoms and may not have been diagnosed. | ||
Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses.<ref>Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat. Diagn. 2015 Aug;35(8):801-9.</ref>. The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000.<ref>McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.</ref>.<ref>Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. </ref>.There are several explanations for the variance in fetal versus live birth prevalence. Firstly, current evidence may not comprise a large enough population. Secondly, 22q11.2 microdeletions may produce embryonically lethal phenotypes, which was observable in animal studies. | Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses.<ref>Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat. Diagn. 2015 Aug;35(8):801-9.</ref>. The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000.<ref>McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.</ref>.<ref>Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. </ref>.There are several explanations for the variance in fetal versus live birth prevalence. Firstly, current evidence may not comprise a large enough population. Secondly, 22q11.2 microdeletions may produce embryonically lethal phenotypes, which was observable in animal studies. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Epidemiology and Demographics
Incidence and Prevalence
22q11.2 deletion syndrome affects an estimated 25 in 100,000 live births [1]. The condition may be more common, however, because some people with the deletion have few signs and symptoms and may not have been diagnosed. Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses.[2]. The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000.[3].[4].There are several explanations for the variance in fetal versus live birth prevalence. Firstly, current evidence may not comprise a large enough population. Secondly, 22q11.2 microdeletions may produce embryonically lethal phenotypes, which was observable in animal studies.
The prevalence of 22q11.2 microdeletion may be more common than supported in literature due to several factors. Firstly, not every patient with this microdeletion presents with several craniofacial abnormalities and hence does not undergo genetic testing. African-American children, for example, may not have the craniofacial abnormalities characteristic of DGS in other races. Secondly, access to healthcare, specifically genetic testing, is not available to every individual that might have the microdeletion, regardless of the severity of craniofacial dysmorphism. Further population studies are therefore needed to fully understand the extent and spectrum of 22q11.2 microdeletions in different populations.[5].
References
- ↑ Oskarsdóttir S, Vujic M, Fasth A (2004). "Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden". Arch. Dis. Child. 89 (2): 148–51. PMC 1719787. PMID 14736631. Unknown parameter
|month=ignored (help) - ↑ Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat. Diagn. 2015 Aug;35(8):801-9.
- ↑ McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
- ↑ Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003 Jul;112(1 Pt 1):101-7.
- ↑ McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, Larossa D, Emanuel BS, Zackai EH. The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am. J. Med. Genet. A. 2005 Apr 30;134(3):242-6.