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22q11 deletion syndrome: current perspective

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dc.contributor.authorsHacihamdioglu, Bulent; Hacihamdioglu, Duygu; Delil, Kenan
dc.date.accessioned2022-03-10T11:40:01Z
dc.date.available2022-03-10T11:40:01Z
dc.date.issued2015-05
dc.description.abstractChromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome ( 22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems
dc.description.abstracttherefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS.
dc.identifier.doi10.2147/TACG.S82105
dc.identifier.eissn1178-704X
dc.identifier.pubmed26056486
dc.identifier.urihttps://hdl.handle.net/11424/219950
dc.identifier.wosWOS:000213909100011
dc.language.isoeng
dc.publisherDOVE MEDICAL PRESS LTD
dc.relation.ispartofAPPLICATION OF CLINICAL GENETICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDiGeorge syndrome
dc.subjectvelocardiofacial syndrome
dc.subjectTBX1
dc.subjectVELOCARDIOFACIAL-SYNDROME
dc.subjectCLINICAL-FEATURES
dc.subjectDIGEORGE-SYNDROME
dc.subject2ND HEART
dc.subjectTBX1
dc.subjectGUIDELINES
dc.subjectADULTS
dc.subjectHYPOPARATHYROIDISM
dc.subjectPROLIFERATION
dc.subjectHYPOCALCEMIA
dc.title22q11 deletion syndrome: current perspective
dc.typereview
dspace.entity.typePublication
local.avesis.id2f802b30-f1bc-4e0c-ac12-55e3bc5e2673
local.import.packageSS4
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages10
oaire.citation.endPage132
oaire.citation.startPage123
oaire.citation.titleAPPLICATION OF CLINICAL GENETICS
oaire.citation.volume8

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