ArticleMolecular cytogenetics2022
Identification of a familial complex chromosomal rearrangement by optical genome mapping.
Article in Molecular cytogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.Molecular cytogenetics · 2025Article
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- The expanding diagnostic toolbox for rare genetic diseases.Nature reviews. Genetics · 2024Review
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.Molecular cytogenetics · 2023Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.Frontiers in genetics · 2023Article
- Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.Frontiers in genetics · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundComplex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion. With the development of cytogenetic and molecular genetic techniques, some chromosomal rearrangements that were initially considered to be simple reciprocal translocations in the past might eventually involve more complex chromosomal rearrangements. CASE PRESENTATION: In this case, a pregnant woman, who had a spontaneous abortion last year, had abnormal prenatal test results again in the second pregnancy. Applying a combination of genetic methods including karyotype analysis, chromosomal microarray analysis, fluorescence in situ hybridization and optical genome mapping confirmed that the pregnant woman was a carrier of a CCR involving three chromosomes and four breakpoints, and the CCR was paternal-origin. Her first and second pregnancy abnormalities were caused by chromosomal microdeletions and microduplications due to the malsegregations of the derivative chromosomes.
conclusionsWe presented a rare familial CCR involving three chromosomes and four breakpoints. This study provided precise and detailed information for the subsequent reproductive decision-making and genetic counselling of the patient.
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