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Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study
ObjectiveTo determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal...
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Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report
BackgroundHemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency...
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of...
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Identification of complex and cryptic chromosomal rearrangements by optical genome map**
BackgroundOptical genome map** (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex...
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Genetic and Chromosomal Instability
All tumours have genetic or chromosomal abnormalities or both, and most cancers are diseases of ageing, suggesting the progressive accumulation of...
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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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Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation
BackgroundUnbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and...
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Identification of a familial complex chromosomal rearrangement by optical genome map**
BackgroundComplex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as...
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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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Identification of chromosomal abnormalities in miscarriages by CNV-Seq
ObjectiveThe primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing...
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FISH-Banding for Characterization of Simple and Complex Chromosomal Rearrangements in Cancer
While interphase and metaphase-directed molecular cytogenetics is a standard technique in routine tumor (cyto)genetics, fluorescence in situ...
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Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)
BackgroundHAP1, a near-haploid human leukemic cancer cell line is often used in combination with CRISPR-Cas9 gene editing technology for genetic...
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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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Ku70 affects the frequency of chromosome translocation in human lymphocytes after radiation and T-cell acute lymphoblastic leukemia
BackgroundAs one of the most common chromosomal causes, chromosome translocation leads to T-cell acute lymphoblastic leukemia (T-ALL). Ku70 is one of...
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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Constitutional heterozygous mutations in CHEK2 gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2 mutations...
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Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report
BackgroundMaternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small...
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De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation
IntroductionDe novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced...
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A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one...
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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
BackgroundUnbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells....
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Mechanisms of structural chromosomal rearrangement formation
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that...
