ArticleBMC medical genetics2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.
- Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.American journal of medical genetics. Part A · 2022Pooled it
- Disorganized Inhibitory Dynamics in Hippocampal area CA1 of 22q11.2 Deletion Mutant Mice.bioRxiv : the preprint server for biology · 2026Article
- Tracheal Compression on Chest X-ray Leading to the Diagnosis of Right Aortic Arch in 22q11.2 Deletion Syndrome.Cureus · 2025Article
- Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.Research square · 2025Article
- From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.Frontiers in immunology · 2025Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.Molecular syndromology · 2023Article
- DiGeorge syndrome: consider the diagnosis.BMJ case reports · 2022Article
- Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.AIMS molecular science · 2021Article
- Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms.NeuroImage. Clinical · 2019Article
- Clinical variability of chromosome 22q11.2 deletion syndrome.Central-European journal of immunology · 2017Article
- Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.Prenatal diagnosis · 2017Article
- Socio-Genomics and Structural Competency.Journal of bioethical inquiry · 2016Article
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Journal of genetic counseling · 2015Article
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Authors and funding
19 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion.
methodsThirty-two 22q11.2DS subjects among 26 families were enrolled.
resultsSecond generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability.
conclusionsSecond generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome.
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