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Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability...
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Historical Perspective of Human Ring Chromosomes
Human ring chromosomes (RCs) are a rare type of chromosomal structural abnormality. Current cytogenomic analysis revealed heterogeneous genomic...
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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
BackgroundUniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the...
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD),...
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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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Creation of Philadelphia chromosome by CRISPR/Cas9-mediated double cleavages on BCR and ABL1 genes as a model for initial event in leukemogenesis
The Philadelphia (Ph) chromosome was the first translocation identified in leukemia. It is supposed to be generated by aberrant ligation between two...
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Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
BackgroundSmall supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044%...
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Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility
Infertility affects about 15% of heterosexual couples and male factors account for ~45–50% of clinical cases. Genetic factors play an important role...
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Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes
ObjectiveWe aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and...
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In vivo Engineering of Chromosome 19 q-arm by Employing the CRISPR/AsCpf1 and ddAsCpf1 Systems in Human Malignant Gliomas (Hypothesis)
Deletions of the q13.3 region of chromosome 19 have been found commonly in all three main kinds of diffuse human malignant gliomas, powerfully...
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Diagnostic Methods for Ring Chromosomes
The molecular characterization of ring chromosome (RC) structural aberrations requires the use of cytogenomic techniques. The first RCs were...
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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced...
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Duplications
Indication for chromosome analysis: Increased rate of abortions.
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Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
BackgroundDeletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which...
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Lanthanum Chloride Induces Axon Abnormality Through LKB1-MARK2 and LKB1-STK25-GM130 Signaling Pathways
Lanthanum (La) is a natural rare-earth element that can damage the central nervous system and impair learning and memory. However, its neurotoxic...
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Conditional survival in multiple myeloma and impact of prognostic factors over time
Overall survival estimates from diagnosis are valuable for guiding treatment, but do not consider the years already survived. Conditional survival...
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Chromosome aberrations induced by the non-mutagenic carcinogen acetamide involve in rat hepatocarcinogenesis through micronucleus formation in hepatocytes
Chromosome aberrations (CAs), i.e. changes in chromosome number or structure, are known to cause chromosome rearrangements and subsequently...
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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Silver-Russell syndrome (SRS) is a congenital disorder characterized by prenatal and postnatal growth failure and craniofacial features....
