Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR [PDF]
BMC GenomicsObjective This study completed the karyotyping of a patient with a complex chromosomal insertion and identified the location of the breakpoint for implementing preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) to ...
Tingting Zheng +7 more
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Identification of a familial complex chromosomal rearrangement by optical genome mapping
Molecular Cytogenetics, 2022 Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion.
Yang Yang, Wang Hao
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A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes
Molecular Cytogenetics, 2022 Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth.
Yan Luo +5 more
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Molecular Cytogenetics, 2022 Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions ...
Dong Li +8 more
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Complex human chromosomal and genomic rearrangements [PDF]
Trends in Genetics, 2009 Copy number variation (CNV) is a major source of genetic variation among humans. In addition to existing as benign polymorphisms, CNVs can also convey clinical phenotypes, including genomic disorders, sporadic diseases and complex human traits. CNV results from genomic rearrangements that can represent simple deletion or duplication of a genomic ...
Feng, Zhang +2 more
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Mechanisms of structural chromosomal rearrangement formation
Molecular Cytogenetics, 2022 Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability.
Bruna Burssed +3 more
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
Genome Medicine, 2020 Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints.
Satomi Mitsuhashi +4 more
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Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing
Scientific Reports, 2021 Genomic rearrangements cause congenital disorders, cancer, and complex diseases in human. Yet, they are still understudied in rare diseases because their detection is challenging, despite the advent of whole genome sequencing (WGS) technologies.
Tatiana Maroilley +5 more
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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Molecular Cytogenetics, 2023 Background Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered ...
Shanshan Shi +3 more
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CONGENITAL COMPLEX CHROMOSOME REARRANGEMENTS (CCR) [PDF]
Pediatric Research, 1987 Congenital OCR have been reported in over 50 patients divided into a familial and de novo categories. Between 1982 and 1986 we saw three unrelated children with de novo (parents had nonnal karyotypes) unbalanced congenital OCR. Lymphocyte and fibroblast karyotypes were studied using G, Q, C, R and NOR banding. Patient 1.
Boris G Koisseff +2 more
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