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Identification of aneuploidy in dogs screened by a SNP microarray
Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a...
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SOX2 expression in the pathogenesis of premalignant lesions of the uterine cervix: its histo-topographical distribution distinguishes between low- and high-grade CIN
SOX2 expression in high-grade cervical intraepithelial neoplasia (CIN3) and cervical squamous cell carcinoma is increased compared to that in the...
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Multitarget Fluorescence In Situ Hybridization Diagnostic Applications in Tumors
Multitarget fluorescence in situ hybridization (mFISH) is a technique that allows the detection of multiple target sequences on the same sample using...
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The identification of gene signatures in patients with extranodal NK/T-cell lymphoma from a pair of twins
BackgroundThere is no unified treatment standard for patients with extranodal NK/T-cell lymphoma (ENKTL). Cancer neoantigens are the result of...
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Family case of Potocki-Lupski syndrome
BackgroundPotocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous...
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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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Urinary Biomarkers In Bladder Cancer
Bladder cancer has a very high frequency of recurrence and therefore requires close clinical surveillance throughout its life, with cystoscopies and...
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Clinical significance and mechanisms associated with segmental UPD
Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD...
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A comprehensive overview of metaplastic breast cancer: clinical features and molecular aberrations
Metaplastic breast cancer (MpBC) is an exceedingly rare breast cancer variant that is therapeutically challenging and aggressive. MpBC is defined by...
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
BackgroundIn medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study...
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High level MYC amplification in B-cell lymphomas: is it a marker of aggressive disease?
While MYC translocations in B-cell lymphoma (BCL) have been extensively studied, the significance of MYC amplification ( MYC amp) is poorly...
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Analysis of Chromosomal Alterations in Urothelial Carcinoma
Here, we describe the use of complementary techniques applicable to different types of samples to analyze chromosomal alterations in urothelial...
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Gain of Chromosomal Region 3q26 as a Prognostic Biomarker for High-Grade Cervical Intraepithelial Neoplasia: Literature Overview and Pilot Study
Approximately 20–40% of high-grade Cervical Intraepithelial Neoplasia (CIN) regresses spontaneously, but the natural prognosis of an individual...
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Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
BackgroundThis study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™)...
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MicroRNA-21 Expression in Primary Breast Cancer Tissue Among Egyptian Female Patients and its Correlation with Chromosome 17 Aneusomy
IntroductionBreast cancer (BC) is the most common cancer amongst Egyptian women and worldwide. MicroRNA-21 (miR-21), on chromosome 17q21.3, is one of...
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Mutant KRAS Status Is Associated with Increased KRAS Copy Number Imbalance: a Potential Mechanism of Molecular Heterogeneity
Mutation rates determined by allele-specific PCR can be highly different in KRAS exon 2 mutant colorectal carcinoma (CRC) samples suggesting...
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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple...
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Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry
Multiple myeloma (MM) is two- to three-fold more common in African Americans (AAs) compared to European Americans (EAs). This striking disparity, one...
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Lung Cancer Biomarkers in Proximal Fluids
Key Topics...
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Aneusomy detection with Karyolite-Bac on Beads® is a cost-efficient and high throughput strategy in the molecular analyses of the early pregnancy conception losses
BackgroundApproximately 10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester,...
