ArticleMolecular cytogenetics2015
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 48 citations in OpenAlex.
- Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.Frontiers in genetics · 2025Article
- Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.Case reports in genetics · 2024Article
- New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.Genes · 2023Article
- Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia.Cytogenetic and genome research · 2022Article
- Chromothripsis and DNA Repair Disorders.Journal of clinical medicine · 2020Review
- The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American journal of human genetics · 2019Review
- On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.Frontiers in genetics · 2019Review
- Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.PLoS genetics · 2018Article
- Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.Clinical and translational medicine · 2016Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothripsis rearrangements often involve reciprocal rearrangements on multiple chromosomes and have been described as cause of contiguous gene syndromes. We hypothesize that chromothripsis could be responsible for known 9q21.13 microdeletion syndrome, causing a composite phenotype with additional features. CASE PRESENTATION: The case reported is a 16- years-old female with a complex genomic rearrangement of chromosome 9 including the critical region of 9q21.13 microdeletion syndrome. The patient presents with platelet disorder and thyroid dysfunction in addition to the classical neurobehavioral phenotype of the syndrome.
conclusionsThe presence of multiple rearrangements on the same chromosome 9 and the rebuilding of chromosome in a random order suggested that the rearrangement could origin from an event of chromthripsis. To our knowledge this is the first report of congenital chromothripsis involving chromosome 9. Furthermore this is the only case of 9q21.13 microdeletion syndrome due to chromothripsis.
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