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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we...
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Distinct pattern of genomic breakpoints in CML and BCR::ABL1-positive ALL: analysis of 971 patients
BackgroundThe BCR::ABL1 is a hallmark of chronic myeloid leukemia (CML) and is also found in acute lymphoblastic leukemia (ALL). Most genomic breaks...
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Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients
Until recently, mainly DNA sequencing has been used to identify variants within the gene coding for homogentisate dioxygenase (HGD, 3q13.33) that...
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OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing...
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Evaluating outcomes associated with revised fluoroquinolone breakpoints for Enterobacterales urinary tract infections: A retrospective cohort study
PurposeIn 2019, minimum inhibitory concentration (MIC) breakpoints of ciprofloxacin and levofloxacin for Enterobacterales were lowered. This study...
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Assessing the colony morphotypes and antibiotic susceptibility profile of Malaysian clinical Burkholderia pseudomallei to support the use of EUCAST disk diffusion breakpoints to determine antibiotic resistance
Burkholderia pseudomallei is intrinsically resistant to many antibiotics. This study aimed to assess bacterial colony morphotypes and the validity of...
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Ring Chromosome 10
Ring chromosome 10 (RC10) has been described in the literature in 18 live-born patients, five of them with breakpoints identified by chromosome...
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Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations
Based on classical karyoty**, structural genome variations (SVs) have generally been considered to be either “simple” (with one or two breakpoints)...
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Optimizing the MIC breakpoints of amoxicillin and tetracycline for antibiotic selection in the rescue therapy of H. pylori with bismuth quadruple regimen
PurposeH. pylori with triple-drug resistance (TR) to clarithromycin, metronidazole, and levofloxacin limits the success of rescue therapy. We aimed...
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The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature
Chromosomal rearrangements mostly result from non-allelic homologous recombination mediated by low-copy repeats (LCRs) or segmental duplications...
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Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript...
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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and...
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Ring Chromosome 4
We describe the cytogenomic and clinical characteristics of 47 individuals of ring chromosome 4 (RC4) published in the literature. In nine cases,...
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Ring Chromosome 3
Ring chromosome 3 (RC3) is an ultra-rare constitutional chromosomal abnormality and has been described in only 13 live-born patients since 1966....
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Predicting recombination suppression outside chromosomal inversions in Drosophila melanogaster using crossover interference theory
Recombination suppression in chromosomal inversion heterozygotes is a well-known but poorly understood phenomenon. Surprisingly, recombination...
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High level of complexity and global diversity of the 3q29 locus revealed by optical map** and long-read sequencing
BackgroundHigh sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous...
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Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation
Hepatitis B virus (HBV) integration is closely associated with the onset and progression of tumors. This study utilized the DNA of 27 liver cancer...
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Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome
BackgroundBiallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60...
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These...
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Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
BackgroundX-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single...
