ArticleMolecular cytogenetics2018
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a
Article in Molecular cytogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Chromoanasynthesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Insight into the Molecular Basis Underlying Chromothripsis.International journal of molecular sciences · 2022Review
- How Chaotic Is Genome Chaos?Cancers · 2021Review
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Chromoanagenesis: a piece of the macroevolution scenario.Molecular cytogenetics · 2020Review
- The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American journal of human genetics · 2019Review
Corrections and comments
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Authors and funding
5 authors.
Funding
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Abstract
backgroundComplex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural alteration resulting from germline chromoanagenesis-type mechanisms are limited. CASE PRESENTATION: We report a two-year eleven-month old male presenting with epilepsy, ataxia and dysmorphic features of unknown etiology. Chromosomal microarray identified a complex unbalanced rearrangement involving chromosome 21. G-banding and FISH for targeted regions of chromosome 21 revealed that the copy number imbalances were limited to gains dispersed throughout the long arm of chromosome 21, characteristic of a chromosome derived from chromoanagenesis. Family studies showed that the unbalanced chromosome had been stably inherited, as it was present in both his healthy mother and maternal grandfather. Further molecular testing for non-syndromic intellectual disability genes found a likely pathogenic mutation in
conclusionsThis study indicates that complex rearrangements involving an unbalanced chromosome derived from chromoanasynthesis can be familial and should be not be presumed pathogenic.
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