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Ring Chromosome X
Cases with ring chromosome X (RCX) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Characteristics and clinical evaluation of X chromosome translocations
BackgroundIndividuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific...
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Sex Chromosome Haploty**
Chromosomes X and Y have been true homologues and have evolved differently over the years. The Y chromosome has shrunk to about 60 Mb in size as a...
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after...
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The inactive X chromosome accumulates widespread epigenetic variability with age
BackgroundLoss of epigenetic control is a hallmark of aging. Among the most prominent roles of epigenetic mechanisms is the inactivation of one of...
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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia,...
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X chromosome dosage and the genetic impact across human tissues
BackgroundSex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood...
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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce...
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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
ObjectiveTo analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random...
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Ring Chromosome Y
Cases with ring chromosome Y (RCY) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Chromosome Bandings and Recognition
Chromosome banding can be defined as the lengthwise variation in staining properties along a chromosome stained with a dye. Chromosome banding became...
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Ring Chromosome 3
Ring chromosome 3 (RC3) is an ultra-rare constitutional chromosomal abnormality and has been described in only 13 live-born patients since 1966....
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The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
BackgroundAssisted reproductive technologies (ART) may perturb DNA methylation (DNAm) in early embryonic development. Although a handful of...
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TLR8 escapes X chromosome inactivation in human monocytes and CD4+ T cells
BackgroundHuman endosomal Toll-like receptors TLR7 and TLR8 recognize self and non-self RNA ligands, and are important mediators of innate immunity...
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Ring Chromosome 15
Ring chromosome 15 (RC15) can be detected using cell-based karyoty** and fluorescence in situ hybridization (FISH) test to determine its structure...
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Robust association tests for quantitative traits on the X chromosome
The genome-wide association study is an elementary tool to assess the genetic contribution to complex human traits. However, such association tests...
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Ring Chromosome 13
Ring chromosome 13 (RC13) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the...
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Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci
Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal...
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X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature
BackgroundPremature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most...
