ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
A germline chromothripsis event stably segregating in 11 individuals through three generations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 97 citations in OpenAlex.
- Immune pathway activation in gastric cancers with LINE-1 retrotransposon overexpression and homologous recombination deficiency.Experimental & molecular medicine · 2026Article
- Chromoplexy: A Pathway to Genomic Complexity and Cancer Development.International journal of molecular sciences · 2025Review
- CDK1 mediates the metabolic regulation of DNA double-strand break repair in metaphase II oocytes.BMC biology · 2025Article
- Chromoplexy.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Chromoanagenesis and Beyond: Catastrophic Events Shaping the Genome.Methods in molecular biology (Clifton, N.J.) · 2025Review
- The Evolutionary Potential of Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Improving laboratory animal genetic reporting: LAG-R guidelines.Nature communications · 2024Review
- Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.Case reports in genetics · 2024Article
- Double-checking chromosome segregation.The Journal of cell biology · 2023Review
- A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.Diagnostics (Basel, Switzerland) · 2022Article
- Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.Frontiers in genetics · 2022Article
- Nuclear Envelope Integrity in Health and Disease: Consequences on Genome Instability and Inflammation.International journal of molecular sciences · 2021Review
- Chromothripsis and Duplications as Underappreciated Genomic Gremlins.Molecular syndromology · 2020Article
- Copy number variations and constitutional chromothripsis (Review).Biomedical reports · 2020Review
- Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.American journal of medical genetics. Part A · 2020Article
- Chromothripsis and DNA Repair Disorders.Journal of clinical medicine · 2020Review
- Genomic Earthquakes in the Human Germline and Their Ramifications.Molecular syndromology · 2020Article
- Chromoanagenesis: a piece of the macroevolution scenario.Molecular cytogenetics · 2020Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeParentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage sensitive genes. We describe a G-CTH transmitted through three generations in 11 healthy carriers.
methodsConventional cytogenetic analysis, mate-pair sequencing, and polymerase chain reaction (PCR) were used to identify the chromosome rearrangement and characterize the breakpoints in all three generations.
resultsWe identified an apparently balanced translocation t(3;5), later shown to be a G-CTH, in all individuals of a three-generation family. The G-CTH stably segregated without occurrence of additional rearrangements; however, several spontaneous abortions were reported, possibly due to unbalanced transmission. Although seven protein-coding genes are interrupted, no clinical features can be definitively attributed to the affected genes. However, it can be speculated that truncation of one of these genes, encoding ataxia-telangiectasia and Rad3-related protein kinase (ATR), a key component of the DNA damage response, may be related to G-CTH formation.
conclusionG-CTH rearrangements are not always associated with abnormal phenotypes and may be misinterpreted as balanced two-way translocations, suggesting that G-CTH is an underdiagnosed phenomenon.Genet Med 18 5, 494-500.
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