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

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dc.contributor.author Rozas, M.Fernanda
dc.contributor.author Benavides, Felipe
dc.contributor.author León, Luis
dc.contributor.author Repetto, Gabriela
dc.date.accessioned 2020-01-02T18:20:53Z
dc.date.available 2020-01-02T18:20:53Z
dc.date.issued 2019
dc.identifier.citation Orphanet Journal of Rare Diseases, 2019, 14:195
dc.identifier.uri http://hdl.handle.net/11447/2983
dc.identifier.uri https://doi.org/10.1186/s13023-019-1170-x
dc.description.abstract Background: 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.
dc.format.extent 9 p.
dc.language.iso en
dc.subject Congenital heart defects
dc.subject Chromosome 22q11.2 deletion syndrome
dc.subject DiGeorge syndrome
dc.subject Meta-analysis
dc.subject Palate anomalies
dc.subject Systematic review
dc.subject Velocardiofacial syndrome
dc.title Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
dc.type Article


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