ArticleThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2006
Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.
Article in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Candidate modifier genes for immune function in 22q11.2 deletion syndrome.Molecular genetics & genomic medicine · 2020Article
- Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Elevated homocysteine andOxford medical case reports · 2017Article
- Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.Experimental and therapeutic medicine · 2015Article
- Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.PloS one · 2013Article
- Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
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Authors and funding
11 authors.
Funding
Abstract
objectiveTo evaluate potential modifiers of the palatal phenotype in individuals with the 22q11.2 deletion syndrome.
designData from 356 subjects enrolled in a study of the 22q11.2 deletion syndrome were used to evaluate potential modifiers of the palatal phenotype. Specifically, subjects with and without velopharyngeal inadequacy and/or structural malformations of the palate were compared with respect to gender, race, and genotype for variants of seven genes that may influence palatal development.
methodsThe chi-square test or Fisher exact test was used to evaluate the association between palatal phenotype and each potential modifier. Odds ratios and their associated 95% confidence intervals were used to measure the magnitude of the association between palatal phenotype, subject gender and race, and each of the bi-allelic variants.
resultsThe palatal phenotype observed in individuals with the 22q11.2 deletion syndrome was significantly associated with both gender and race. In addition, there was tentative evidence that the palatal phenotype may be influenced by variation within the gene that encodes methionine synthase.
conclusionsVariation in the palatal phenotype observed between individuals with the 22q11.2 deletion syndrome may be related to personal characteristics such as gender and race as well as variation within genes that reside outside of the 22q11.2 region.
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