chromosomal aneuploidies
Klinefelter syndrome and other sex chromosomal aneuploidies
... of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, ...sex chromosomal aneuploidies have also been described, although they are much less frequent, ...
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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
... for aneuploidies, microdeletions and single gene ...for chromosomal aneuploidies (trisomy 21, trisomy 18 and trisomy 13), sex chromosome aneuploidies (SCA) and four microdeletion syndromes ...
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Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
... In principle, an MPS-based approach that resolves whole genome information should be applicable for detecting aneuploidies in all of the chromosomes. Chen et al. showed, however, that such test was less successful ...
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
... common aneuploidies such as T21, T18, and T13, with low false positive and false negative ...sex chromosomal aneuploidies (SCAs) detection than autosomal aneuploidies ...
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Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips
... fetal chromosomal aneuploidy malformations in all twelve ...with chromosomal aneuploidy was significantly higher than those with normal chromosomal ...
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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
... The application of NIPT has revolutionized prenatal screening of common aneuploidies and other conditions of clinical relevance. This study provides further proof of the high accuracy of NIPT compared to ...
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High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting
... X chromosomal gene dosage between the sexes and is con- trolled by the expression of the X-encoded long non- coding RNA XIST (X-inactive-specific transcript), which upon expression coats the X chromosome and ...
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Non-invasive prenatal testing: a review of international implementation and challenges
... Abstract: Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its ...
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QF PCR as a molecular based method for autosomal aneuploidies detection
... mal aneuploidies are either Inter-phase-Fluore- scence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Chain Reaction ...common chromosomal aneuploidies was blindly tested for ...
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Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
... Non-invasive prenatal diagnosis (NIPD) has substantial medical importance as it targets the development of safer and more eff ective methods to avoid the risk of fetal loss associated with currently used invasive ...
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9. Sarita Sharma
... induced chromosomal aberrations on short-horned grasshopper when exposed to whole body irradiations of different doses of gamma ...observed chromosomal aberrations due to radiation in Helicoperva zea ...
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Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies
... chromosome aneuploidies should facilitate identification of these individuals, allowing them to receive early evaluation and therapeutic intervention as ...
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Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches
... tients, chromosomal anomalies were detected most commonly, making the conventional karyotyping and molecular karyotyping currently the most ef- fective diagnostic test in cases of ID / ...
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INSERTIONS OF THE TRANSPOSON Tn1 INTO THE PSEUDOMONAS AERUGINOSA CHROMOSOME
... Chromosomal location for Cbr: I n order to confirm directly this hypothesis, the chromosomal locations of the Cbl' gene in these transductants was mapped genetically by [r] ...
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Estimating the Risk for Chromosomal Abnormalities and Heteromorphic Variants in Azoospermic and Severe Oligozoospermic Men
... This study suggests a positive family history of infertility, parental consanguineous marriages and high levels of FSH as strong determinants or risk factors for male infertility. Nonetheless, the presence of these ...
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Integrative analysis of DNA copy number, DNA methylation and gene expression in multiple myeloma reveals alterations related to relapse
... The diversity of changes at relapse might prevent clusters being distinguished with common DNA imbalances when it comes to searching for an associated specific expression signature. Unstable genomes at relapse, with a ...
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THE PROTECTIVE EFFECTS OF PHYLLANTHUS EMBLICA IN CYCLOPHOSPHAMIDE INDUCED GENOTOXICITY IN MICE
... In the present investigation the antimutagenic effects of Phyllanthus fruit extract (PFE) has been evaluated against cyclophosphamide induced genotoxicity in bone marrow cells of mice. The administration of Phyllanthus ...
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EVALUATION OF CYTOTOXIC EFFECT OF PHOSKILL ON THE ROOT TIPS OF ALLIUM CEPA L
... Selection of pesticide: The pesticide Phoskill 35 SL was taken to study the chromosomal abnormalities on the root tips of Allium cepa L. It is classified as organophosphate pesticide coming under Monocrotophos. It ...
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Chromosomal “Stress Response” Domains Govern the Spatiotemporal Expression of the Bacterial Virulence Program
... the chromosomal DNA was relaxed by treatment with the DNA gyrase inhibitor novobiocin or application of envi- ronmental (oxidative and acidic) stresses, whereas FIS and H-NS distinctly modulated the response of ...
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Predominance of constitutional chromosomal rearrangements in human chromosomal fragile sites
... Despite the DNA sequence is substantially different among the types of fragile sites, the idea that a general mechanism of failure of replication and fragility at dif- ferent types of chromosomal fragile sites is ...
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