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Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
BackgroundFew co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big...
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Aneuploidy during development in facultative parthenogenetic Drosophila
From concatenated chromosomes to polyploidization, large-scale genome changes are known to occur in parthenogenetic animals. Here, we report mosaic...
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Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress
Aneuploidy, having an aberrant genome, is gaining increasing attention in neurodegenerative diseases. It gives rise to proteotoxic stress as well as...
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Preimplantation genetic testing for aneuploidy: challenges in clinical practice
Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers...
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Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate
BackgroundDouble aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an...
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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants...
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FISHing for Chromosome Instability and Aneuploidy in the Alzheimer’s Disease Brain
Fluorescence in situ hybridization (FISH) is the method of choice for visualizing chromosomal DNA in post-mitotic cells. The availability of...
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A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
BackgroundGATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell...
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Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs
BackgroundLow-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study...
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Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study
BackgroundPreimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but...
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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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Haploty**-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation
Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized....
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Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes
BackgroundIn vitro oocyte maturation (IVM) is being increasingly approached in assisted reproductive technology (ART). This study aimed to evaluate...
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Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review
BackgroundTo date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations...
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Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
BackgroundWith the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease...
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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
BackgroundUnbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells....
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Aneuploidy as a promoter and suppressor of malignant growth
Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant...
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Prevalence of common aneuploidy in twin pregnancies
The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of...
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Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium
Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing....
