ArticleGenes2021
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed, 10 citations in OpenAlex.
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- Unveiling genetic and biological links: exploring the intersection of autoimmune and psychiatric disorders.European journal of medical research · 2025Article
- Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies.PloS one · 2025Article
- Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.Archives of gynecology and obstetrics · 2024Article
- The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.Brain sciences · 2024Article
- Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report.SAGE open medical case reports · 2024Article
- Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.Genes · 2023Article
- Autism and duplication of 17q12q21.2 by array-CGH: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Article
- Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome.Frontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.
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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 Socratic graph.