Preimplantation genetic testing for aneuploidy and chromosomal structural rearrangement: A summary of a nationwide study by the Japan Society of Obstetrics and Gynecology
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DOI: 10.1002/rmb2.12518
Abstract: Abstract Purpose The Japan Society of Obstetrics and Gynecology conducted a nationwide clinical study to evaluate the pregnancy outcomes of preimplantation genetic testing for aneuploidy or chromosomal structural rearrangement (PGT‐A/SR). Methods Patients that had experienced… read more here.
Keywords: chromosomal structural; structural rearrangement; obstetrics; pregnancy ... See more keywords
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
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DOI: 10.3389/fgene.2022.803088
Abstract: Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion or… read more here.
Keywords: neurodevelopmental disorders; structural abnormalities; chromosomal structural; analysis ... See more keywords
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing
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DOI: 10.4103/aja2021106
Abstract: Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely unknown. Herein, we… read more here.
Keywords: chromosomal structural; apparently balanced; structural rearrangements; etiology ... See more keywords