ArticleFrontiers in pediatrics2018
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.
Article in Frontiers in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- CHD1L in cancer and beyond: structure, oncogenic functions, and therapeutic potential.Journal of experimental & clinical cancer research : CR · 2025Review
- Circadian clock crosstalks with autism.Brain and behavior · 2023Article
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.BMC medical genomics · 2023Article
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- 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
- Article
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes.Risk management and healthcare policy · 2021Article
- The sociability spectrum: evidence from reciprocal genetic copy number variations.Molecular autism · 2020Review
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child,
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