ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Cardiovascular findings in duplication 17p11.2 syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 39 citations in OpenAlex.
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.BMC medical genomics · 2021Article
- Anesthesia in a Patient with Potocki-Lupski Syndrome.Case reports in anesthesiology · 2021Article
- Case Report: Potocki-Lupski Syndrome in Five Siblings.Frontiers in pediatrics · 2021Article
- Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes.Scientific reports · 2020Article
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.American journal of medical genetics. Part A · 2020Article
- Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.American journal of medical genetics. Part A · 2019Article
- The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Journal of neurodevelopmental disorders · 2018Article
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Genome medicine · 2017Article
- Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.Journal of pediatric genetics · 2015Review
- Genetic basis of congenital cardiovascular malformations.European journal of medical genetics · 2014Review
- Stress and well-being among parents of children with Potocki-Lupski syndrome.Journal of genetic counseling · 2013Article
- Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.Human molecular genetics · 2012Article
- New Genetic Insights into Congenital Heart Disease.Journal of clinical & experimental cardiology · 2012Article
- Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.The Journal of pediatrics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeCardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.
methodsTwenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.
resultsCardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.
conclusionDuplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.