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The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFParental balanced translocation carriers do not have decreased usable blastulation rates or live birth rates compared with infertile controls.
Fertil Steril
November 2024
Instituto Valenciano de Infertilidad and Reproductive Medicine Associates Global Research Alliance, Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Article Synopsis
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Am J Hum Genet
December 2024
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:
Article Synopsis
- Researchers tackled the challenge of studying structural variants (SVs) in repetitive genomic regions using advanced technologies like long-read sequencing and the gapless T2T assembly.
- They successfully analyzed 13 complex cases, resolving 10 by identifying specific genomic breakpoints and structures that were previously difficult to sequence, including Robertsonian translocations and ring chromosomes.
- The study highlighted new mechanisms for SV formation and provided insights into how these genome variations affect gene expression and potential implications for disease diagnosis and genome biology.
Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- Prenatal diagnosis of mosaic trisomy 21 was successfully performed on a 41-year-old woman during an amniocentesis, revealing a mix of normal and abnormal cells in the fetus due to a Robertsonian translocation.
- Despite initial concerns, subsequent tests showed significant normalization in fetal cells, leading to a reassuring outcome.
- At 38 weeks, the mother delivered a healthy baby with normal development, confirming that even low-level chromosomal abnormalities can result in positive pregnancy outcomes.
Structure and evolution of metapolycentromeres.
Vavilovskii Zhurnal Genet Selektsii
October 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Metapolycentromeres consist of multiple sequential domains of centromeric chromatin associated with a centromere-specific variant of histone H3 (CENP-A), functioning collectively as a single centromere. To date, they have been revealed in nine flowering plant, five insect and six vertebrate species. In this paper, we focus on their structure and possible mechanisms of emergence and evolution.
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