ArticleItalian journal of pediatrics2017
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Article in Italian journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.Nature genetics · 2020Pooled it
- Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.European journal of pediatrics · 2026Article
- Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals.Molecular syndromology · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- Article
- 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.Current issues in molecular biology · 2025Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature.Frontiers in genetics · 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
- Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome.Molecular psychiatry · 2022Article
- Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation.Disease markers · 2022Article
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers.Medical science monitor : international medical journal of experimental and clinical research · 2021Article
- 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.Translational psychiatry · 2021Article
- Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.Clinical dysmorphology · 2020Review
- Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.Frontiers in genetics · 2020Article
- 1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.Indian journal of pediatrics · 2019Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder.
methodsOur study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by array-CGH.
resultsOur data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed common phenotypic features, described in previous studies, but we also described, for the first time, congenital hypothyroidism in association with 1q21.1 deletion and trigonocephaly associated with 1q21.1 duplication.
conclusionsThe aim of this study is to contribute to the definition of the phenotype associated with reciprocal 1q21.1 deletions and duplications.
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