SynthesisEuropean journal of human genetics : EJHG2011
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Synthesis in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Characterization of cryptic complex chromosome rearrangements in balanced chromosomal rearrangement carriers and their PGT-SR clinical outcome assessments.Scientific reports · 2024Article
- Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.Journal of pediatric genetics · 2024Article
- Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.Journal of clinical laboratory analysis · 2024Article
- Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.Journal of assisted reproduction and genetics · 2024Article
- The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.Translational psychiatry · 2022Article
- Identification of a familial complex chromosomal rearrangement by optical genome mapping.Molecular cytogenetics · 2022Article
- D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.Diagnostics (Basel, Switzerland) · 2021Article
- Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.Balkan journal of medical genetics : BJMG · 2020Article
- Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.BMJ case reports · 2019Article
- Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?Molecular genetics & genomic medicine · 2019Article
- The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders.High-throughput · 2018Review
- Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.American journal of human genetics · 2018Article
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Nature genetics · 2017Article
- Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Molecular cytogenetics · 2017Review
- Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.EBioMedicine · 2016Article
- Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.American journal of human genetics · 2016Article
- Chromosomal catastrophe is a frequent event in clinically insignificant prostate cancer.Oncotarget · 2015Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Exceptional complex chromosomal rearrangements in three generations.Case reports in genetics · 2015Article
- The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Molecular cytogenetics · 2015Article
Corrections and comments
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Authors and funding
15 authors.
Funding
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Abstract
High-resolution genome-wide array analysis enables detailed screening for cryptic and submicroscopic imbalances of microscopically balanced de novo rearrangements in patients with developmental delay and/or congenital abnormalities. In this report, we added the results of genome-wide array analysis in 54 patients to data on 117 patients from seven other studies. A chromosome imbalance was detected in 37% of all patients with two-breakpoint rearrangements. In 49% of these patients, the imbalances were located in one or both breakpoint regions. Imbalances were more frequently (90%) found in complex rearrangements, with the majority (81%) having deletions in the breakpoint regions. The size of our own cohort enabled us to relate the presence of an imbalance to the clinical features of the patients by using a scoring system, the De Vries criteria, that indicates the complexity of the phenotype. The median De Vries score was significantly higher (P=0.002) in those patients with an imbalance (5, range 1-9) than in patients with a normal array result (3, range 0-7). This study provides accurate percentages of cryptic imbalances that can be detected by genome-wide array analysis in simple and complex de novo microscopically balanced chromosome rearrangements and confirms that these imbalances are more likely to occur in patients with a complex phenotype.
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