Detecting Breakage Fusion Bridge cycles in tumor genomes -- an algorithmic approach [PDF]
, 2013 Breakage-Fusion-Bridge (BFB) is a mechanism of genomic instability characterized by the joining and subsequent tearing apart of sister chromatids. When this process is repeated during multiple rounds of cell division, it leads to patterns of copy number increases of chromosomal segments as well as fold-back inversions where duplicated segments are ...
arxiv +1 more source
Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple-color fluorescence in situ hybridization [PDF]
, 1992 Triple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of ...
Anastasi +33 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking +6 more
wiley +1 more source
Candidate genes for infertility: an in-silico study based on cytogenetic analysis
BMC Medical Genomics, 2022 Background The cause of infertility remains unclear in a significant proportion of reproductive-age couples who fail to conceive naturally. Chromosomal aberrations have been identified as one of the main genetic causes of male and female infertility ...
Jatinder Singh Sahota +3 more
doaj +1 more source
A Novel Application of Image-to-Image Translation: Chromosome Straightening Framework by Learning from a Single Image [PDF]
arXiv, 2021 In medical imaging, chromosome straightening plays a significant role in the pathological study of chromosomes and in the development of cytogenetic maps. Whereas different approaches exist for the straightening task, typically geometric algorithms are used whose outputs are characterized by jagged edges or fragments with discontinued banding patterns.
arxiv
Cytogenetics of hepatoblastoma
Frontiers in Bioscience, 2012 The cytogenetics of hepatoblastoma demonstrate recurring events which include whole chromosome trisomies, most commonly trisomy of chromosome 2, 8, or 10. In addition, unbalanced translocations involving a breakpoint on the proximal short arm of chromosome 1 are observed which result in a duplication of the long arm of chromosome 1q.
openaire +3 more sources
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia [PDF]
, 2006 s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.
Bennett JM +46 more
core +1 more source
Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun +3 more
wiley +1 more source
Deep Anomaly Generation: An Image Translation Approach of Synthesizing Abnormal Banded Chromosome Images [PDF]
arXiv, 2021 Advances in deep-learning-based pipelines have led to breakthroughs in a variety of microscopy image diagnostics. However, a sufficiently big training data set is usually difficult to obtain due to high annotation costs. In the case of banded chromosome images, the creation of big enough libraries is difficult for multiple pathologies due to the rarity
arxiv
Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21 [PDF]
, 1992 A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2.
Becher, Reinhard +8 more
core