ArticleEuropean journal of human genetics : EJHG2012
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 115 citations in OpenAlex.
- Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.Journal of human genetics · 2026Article
- Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion.Molecular cytogenetics · 2026Article
- Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals.Molecular syndromology · 2025Article
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- A Case Report on 13q12.3 Microdeletion Syndrome Caused byCase reports in genetics · 2024Article
- Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations.Methods in molecular biology (Clifton, N.J.) · 2024Review
- Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability.Scientific reports · 2023Article
- Article
- Balanced at First Sight, but in Reality out of Balance.Molecular syndromology · 2021Article
- An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.Molecular syndromology · 2021Article
- Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective.Animals : an open access journal from MDPI · 2021Review
- Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.European journal of human genetics : EJHG · 2021Review
- Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.Frontiers in genetics · 2021Article
- Chromothripsis and Duplications as Underappreciated Genomic Gremlins.Molecular syndromology · 2020Article
- First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.Scientific reports · 2020Article
- 13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.Molecular cytogenetics · 2020Article
- Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.Frontiers in genetics · 2020Article
- Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.Scientific reports · 2019Article
- 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
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Authors and funding
18 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. The identification of a pathogenic copy number variant (CNV) is not only important to make a proper diagnosis but also to enable the accurate estimation of the recurrence risk to family members. Upon the identification of a de novo interstitial loss or gain, the risk recurrence is considered very low. However, this risk is 50% if one of the parents is carrier of a balanced insertional translocation (IT). The apparently de novo imbalance in a patient is then the consequence of the unbalanced transmission of a derivative chromosome involved in an IT. To determine the frequency with which insertional balanced translocations would be the origin of submicroscopic imbalances, we investigated the potential presence of an IT in a consecutive series of 477 interstitial CNVs, in which the parental origin has been tested by FISH, among 14,293 patients with developmental abnormalities referred for array. We demonstrate that ITs underlie ~2.1% of the apparently de novo, interstitial CNVs, indicating that submicroscopic ITs are at least sixfold more frequent than cytogenetically visible ITs. This risk estimate should be taken into account during counseling, and warrant parental and proband FISH testing wherever possible in patients with an apparently de novo, interstitial aberration.
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