ArticleMolecular syndromology2015
Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.
Article in Molecular syndromology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed.
- Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series.Molecular cytogenetics · 2025Article
- 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.Current issues in molecular biology · 2025Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.Frontiers in pediatrics · 2024Article
- Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.BMC medical genomics · 2023Article
- Identification of 1q21.1 microduplication in a family: A case report.World journal of clinical cases · 2023Article
- Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications.Frontiers in medicine · 2023Article
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Human brain mapping · 2022Review
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.Translational psychiatry · 2021Article
- Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.Frontiers in genetics · 2020Article
- Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies.Frontiers in genetics · 2018Article
- Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.The journal of gene medicine · 2017Article
- The importance of copy number variation in congenital heart disease.NPJ genomic medicine · 2016Article
- Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care.Frontiers in cardiovascular medicine · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected. We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). Our observations underline the incomplete penetrance and phenotypic variability of this rearrangement. We also confirm the association with congenital heart malformations, chronic depression, and anxiety. Furthermore, we report a broader range of dysmorphic features. The extreme phenotypic heterogeneity observed in this family suggests that additional factors modify the clinical phenotype.
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.