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Deletion Syndrome 22q11.2: A Systematic Review
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calc...
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| Published in: | Children (Basel) 2022-08, Vol.9 (8), p.1168 |
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| container_title | Children (Basel) |
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| creator | Cortés-Martín, Jonathan Peñuela, Nuria López Sánchez-García, Juan Carlos Montiel-Troya, Maria Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel |
| description | 22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities. |
| doi_str_mv | 10.3390/children9081168 |
| format | article |
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It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.</description><identifier>ISSN: 2227-9067</identifier><identifier>EISSN: 2227-9067</identifier><identifier>DOI: 10.3390/children9081168</identifier><identifier>PMID: 36010058</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>22q11.2 deletion syndrome ; Chromosomes ; congenital anomalies ; daily activities ; DiGeorge syndrome ; Families & family life ; Gene expression ; Mothers ; Pediatrics ; Physiological aspects ; Quality of life ; rare disease ; Rare diseases ; Socioeconomic factors ; Systematic Review ; velocardiofacial syndrome</subject><ispartof>Children (Basel), 2022-08, Vol.9 (8), p.1168</ispartof><rights>COPYRIGHT 2022 MDPI AG</rights><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.</description><subject>22q11.2 deletion syndrome</subject><subject>Chromosomes</subject><subject>congenital anomalies</subject><subject>daily activities</subject><subject>DiGeorge syndrome</subject><subject>Families & family life</subject><subject>Gene expression</subject><subject>Mothers</subject><subject>Pediatrics</subject><subject>Physiological aspects</subject><subject>Quality of life</subject><subject>rare disease</subject><subject>Rare diseases</subject><subject>Socioeconomic factors</subject><subject>Systematic Review</subject><subject>velocardiofacial syndrome</subject><issn>2227-9067</issn><issn>2227-9067</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkktrGzEQgJfS0oQ0596KoZde7Izeqx4KJm3TQKDQx1lopZEjsysl2nVC_n3lOE3jUHSQGH3zSTNM07wlsGBMw4m7jL0vmDS0hMj2RXNIKVVzDVK9fHI-aI7HcQ0AhFFBW_W6OWASCIBoD5vFZ-xxijnNft4lX_KAM0qvCVnQj7NljY0TDnaKbvYDbyLevmleBduPePywHzW_v375dfptfvH97Px0eTF3QvBprq323oHUtgNGZCdIcJx5J1wXKFIIlhJCrdCdA-uReyK4IJ0I3FrlKnrUnO-8Ptu1uSpxsOXOZBvNfSCXlbGlfqtHQ6tWac8RLOdByZYpwrpap0RUjsnq-rRzXW26Ab3DNBXb70n3b1K8NKt8YzQHKVtVBR8eBCVfb3CczBBHh31vE-bNaKgCJQE0aSv6_hm6zpuSaqu2lCRMCEb-UStbC4gp5Pqu20rNUnHOlFAtrdTiP1RdHofocsIQa3wv4WSX4Eoex4LhsUYCZjsx5tnE1Ix3T1vzyP-dD_YHXHe53Q</recordid><startdate>20220801</startdate><enddate>20220801</enddate><creator>Cortés-Martín, Jonathan</creator><creator>Peñuela, Nuria López</creator><creator>Sánchez-García, Juan Carlos</creator><creator>Montiel-Troya, Maria</creator><creator>Díaz-Rodríguez, Lourdes</creator><creator>Rodríguez-Blanque, Raquel</creator><general>MDPI AG</general><general>MDPI</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>NAPCQ</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-4019-8555</orcidid><orcidid>https://orcid.org/0000-0002-4650-2159</orcidid><orcidid>https://orcid.org/0000-0001-7906-5656</orcidid><orcidid>https://orcid.org/0000-0003-2086-1222</orcidid></search><sort><creationdate>20220801</creationdate><title>Deletion Syndrome 22q11.2: A Systematic Review</title><author>Cortés-Martín, Jonathan ; 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| subjects | 22q11.2 deletion syndrome Chromosomes congenital anomalies daily activities DiGeorge syndrome Families & family life Gene expression Mothers Pediatrics Physiological aspects Quality of life rare disease Rare diseases Socioeconomic factors Systematic Review velocardiofacial syndrome |
| title | Deletion Syndrome 22q11.2: A Systematic Review |
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