ArticleMolecular cytogenetics2016
Interstitial
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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.
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Who cites it
8 citing papers in PubMed.
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Frontiers in genetics · 2026Article
- Protective effect of bone morphogenetic protein-7 induced differentiation of bone marrow mesenchymal stem cells in rat with acute spinal cord injury.Functional & integrative genomics · 2023Article
- Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.Orphanet journal of rare diseases · 2022Review
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
- Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.Open life sciences · 2022Article
- Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.Clinical case reports · 2019Article
- Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.Journal of pediatric genetics · 2019Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, growth retardation, bilateral vertical talus, congenital aural atresia, dysmorphisms, mild psychomotor delay, and peculiar neuroradiological features. Array-CGH analysis revealed one of the smallest 18q22.3q23 interstitial deletions involving five genes:
conclusionsHerein we focus on previously unreported heralding symptoms and neuroradiological abnormalities which enlarge the spectrum of 18q deletion syndrome demonstrating that a small deletion can determine a complex phenotype.
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Registered trials
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