ArticleAmerican journal of medical genetics. Part A2007
X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate.
Article in American journal of medical genetics. Part A, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 26 citations in OpenAlex.
- Epigenetic Mechanisms in Cleft Lip and Palate: A Comprehensive Review of Current Insights and Future Perspectives.Plastic and reconstructive surgery. Global open · 2026Article
- Article
- Analysis of the profile of patients admitted to an orofacial cleft rehabilitation service: An observational study, Cuiabá, 2005-2023.Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil · 2025Observational
- Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.Genetic epidemiology · 2018Article
- Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.American journal of medical genetics. Part A · 2017Article
- Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.Stem cells international · 2017Article
- Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2017Article
- Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.European journal of human genetics : EJHG · 2012Article
- Risk of oral clefts in twins.Epidemiology (Cambridge, Mass.) · 2011Article
- Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort.American journal of medical genetics. Part A · 2010Article
- Skewed X inactivation and IVF-conceived infants.Reproductive biomedicine online · 2010Article
- Physical manifestations of neurodevelopmental disruption: are minor physical anomalies part of the syndrome of schizophrenia?Schizophrenia bulletin · 2009Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
Abstract
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft palate group showing the most significant result (P = 0.01). We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting, particularly cleft lip and palate.
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