ArticleInternational journal of molecular sciences2019
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Copy number variations in spontaneous abortions: a meta-analysis.Journal of assisted reproduction and genetics · 2025Pooled it
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.International journal of molecular sciences · 2025Article
- Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion.Frontiers in genetics · 2025Article
- Genetic analysis of partial duplication of the long arm of chromosome 16.BMC medical genomics · 2024Article
- Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications.Journal of clinical laboratory analysis · 2024Article
- Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.BMC pediatrics · 2024Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.BMC pregnancy and childbirth · 2023Article
- Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.Molecular genetics & genomic medicine · 2023Article
- Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders.Frontiers in neuroscience · 2023Article
- 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.BMC pregnancy and childbirth · 2022Article
- Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.American journal of human genetics · 2022Article
- Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report.World journal of clinical cases · 2022Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype.Journal of endocrinological investigation · 2022Article
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
- Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.The journal of gene medicine · 2021Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at 16p13.11 was found in seven patients; one at 16p12.2 was found in four patients; two close SROs at 16p11.2 were found in twelve patients; finally, six patients were found with atypical rearrangements. Although phenotypic variability was observed, we identified a male bias for Childhood Apraxia of Speech associated to 16p11.2 microdeletions. We also reported an elevated frequency of second-site genomic alterations, supporting the model of the second hit to explain the clinical variability associated with CNV syndromes. Our goal was to contribute to the building of a chromosome 16 disease-map based on disease susceptibility regions. The role of the CNVs of chromosome 16 was increasingly made clear in the determination of developmental delay. We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect.
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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.