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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: Systematic review and meta-analysis

dc.contributor.authorRozas M.F.
dc.contributor.authorBenavides F.
dc.contributor.authorLeón L.
dc.contributor.authorRepetto G.M.
dc.date.accessioned2020-09-02T22:27:30Z
dc.date.available2020-09-02T22:27:30Z
dc.date.issued2019
dc.identifier10.1186/s13023-019-1170-x
dc.identifier.citation14, 1, -
dc.identifier.issn17501172
dc.identifier.urihttps://hdl.handle.net/20.500.12728/6096
dc.descriptionBackground: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power. Results: Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (ORAB v/s AC-AD: 0.654 [0.408-1.046]; OR AD v/s AB-AC: 1.291 [0.860-1.939]) or palate anomalies (ORAB v/s AC-AD: 1.731 [0.708-4.234]; OR AD v/s AB-AC: 0.628 [0.286-1.382]). Conclusions: The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes. © 2019 The Author(s).
dc.language.isoen
dc.publisherBioMed Central Ltd.
dc.subjectChromosome 22q11.2 deletion syndrome
dc.subjectCongenital heart defects
dc.subjectDiGeorge syndrome
dc.subjectMeta-analysis
dc.subjectPalate anomalies
dc.subjectSystematic review
dc.subjectVelocardiofacial syndrome
dc.subjectaortic arch interruption
dc.subjectArticle
dc.subjectChilean
dc.subjectchromosome deletion 22q11
dc.subjectcleft lip palate
dc.subjectcleft palate
dc.subjectcongenital heart disease
dc.subjectdisease course
dc.subjectFallot tetralogy
dc.subjectgene deletion
dc.subjectgenetic association
dc.subjectheart atrium septum defect
dc.subjectheart right ventricle double outlet
dc.subjectheart ventricle septum defect
dc.subjecthuman
dc.subjectpalate malformation
dc.subjectpalatopharyngeal incompetence
dc.subjectphenotype
dc.subjectpulmonary valve atresia
dc.subjectsegmental duplication
dc.subjectsystematic review
dc.subjectarachnodactyly
dc.subjectchromosome deletion
dc.subjectcraniofacial synostosis
dc.subjectgenetics
dc.subjectMarfan syndrome
dc.subjectmeta analysis
dc.subjectphenotype
dc.subjectArachnodactyly
dc.subjectChromosome Deletion
dc.subjectCraniosynostoses
dc.subjectHumans
dc.subjectMarfan Syndrome
dc.subjectPhenotype
dc.titleAssociation between phenotype and deletion size in 22q11.2 microdeletion syndrome: Systematic review and meta-analysis
dc.typeArticle


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