ArticleJournal of medical genetics2005
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01826708 (Development of a Technique to Identify New Genes by Studying and Cloning the Breakpoints of de Novo Apparently Balanced Chromosomal Translocations in Patients Presenting With Syndromic Psychomotor Retardation), which is not on this map. Cited by 64 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Development of a Technique to Identify New Genes by Studying and Cloning the Breakpoints of de Novo Apparently Balanced Chromosomal Translocations in Patients Presenting With Syndromic Psychomotor Retardation
Who cites it
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 216 citations in OpenAlex.
- A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1.Frontiers in genetics · 2022Pooled it
- Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.European journal of human genetics : EJHG · 2011Pooled it
- Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.International journal of molecular sciences · 2025Article
- Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester.Heliyon · 2024Article
- Optical Genome Mapping Reveals Disruption of theGenes · 2024Article
- Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.Frontiers in genetics · 2024Article
- Article
- Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.Balkan journal of medical genetics : BJMG · 2020Article
- Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?Molecular genetics & genomic medicine · 2019Article
- Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Molecular syndromology · 2017Article
- 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
- KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.BMC medical genetics · 2015Article
- Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Molecular autism · 2015Article
- Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013Article
- Directional genomic hybridization for chromosomal inversion discovery and detection.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2013Article
- Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Genome research · 2013Article
- Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.The Journal of physiology · 2013Article
- Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.BMC medical genetics · 2012Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances.
methodsDNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the patients. Array CGH was used to screen for genomic imbalance and array painting to map chromosome breakpoints rapidly. These two methods facilitate rapid analysis of translocation breakpoints and screening for cryptic chromosome imbalance. Breakpoints of rearrangements were further refined (to the level of spanning clones) using fluorescence in situ hybridisation where appropriate.
resultsUnexpected additional complexity or genome imbalance was found in six of 10 patients studied. The patients could be grouped according to the general nature of the karyotype rearrangement as follows: (A) three cases with complex multiple rearrangements including deletions, inversions, and insertions at or near one or both breakpoints; (B) three cases in which, while the translocations appeared to be balanced, microarray analysis identified previously unrecognised imbalance on chromosomes unrelated to the translocation; (C) four cases in which the translocation breakpoints appeared simple and balanced at the resolution used.
conclusionsThis high level of unexpected rearrangement complexity, if generally confirmed in the study of further patients, will have an impact on current diagnostic investigations of this type and provides an argument for the more widespread adoption of microarray analysis or other high resolution genome-wide screens for chromosome imbalance and rearrangement.
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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 OpenQuestion graph.