The normality of sperm in an infertile man with ring chromosome 15: a case report

Ring chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.

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“…Clinical manifestations in ring 15 chromosome in the reported patients and current case report (N ¼ 99)1,7 …”

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confidence: 78%

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

et al. 2020

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“…We used the ONT data to detect 5mC CpG methylation in regions around rearrangement breakpoints, and identified unique allele-specific DNA methylation in four rearrangements: r(15), both r(17)s, and t(X;17). In r (15), the strong hypermethylation signal on the q-arm of the ring haplotype proximal to the breakpoint was likely related to the location of the p-arm breakpoint, which was inside of an Alpha satellite in close proximity to the start of the centromere -a region known to be heavily methylated 66 . Bringing this pericentromeric region in close proximity to the q-arm may have caused the spreading of heterochromatin to the q-arm.…”

Section: Discussionmentioning

confidence: 99%

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

Mostovoy,

Boone,

Huang

et al. 2023

Preprint

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SummaryThe capacity to resolve structural variants (SVs) at sequence resolution in highly repetitive genomic regions has long been intractable. Consequently, the properties, origins, and functional effects of multiple classes of complex rearrangement are unknown. To resolve these challenges, we leveraged recent technical milestones: 1) Oxford-Nanopore (ONT) sequencing; 2) the gapless Telomere-to-Telomere (T2T) genome assembly; and 3) a novel tool to discover large-scale rearrangements from long-reads. We applied these technologies across 13 patients with ring chromosomes, Robertsonian translocations, and complex balanced SVs that were unresolved by short-read sequencing. We resolved 10 of 13 events, including ring chromosomes, the complex SVs, and a Robertsonian translocation. Multiple breakpoints were localized to highly repetitive regions inaccessible to short-read alignment, such as acrocentric p-arms, ribosomal DNA arrays, and telomeric repeats, and involved complex structures such as a deletion-inversion and interchromosomal dispersed duplications. We also leveraged ONT native methylation detection to discover phased differential methylation in a gene promoter proximal to a ring fusion site, suggesting a long-range positional effect with heterochromatin spreading. Breakpoint sequences were consistent with common mechanisms of SV formation, including microhomology-mediated mechanisms, non-homologous end-joining, and non-allelic homologous recombination. These methods provide some of the first glimpses into the sequence resolution of ring chromosomes and Robertsonian translocations and illuminate the structural diversity of chromosomal rearrangements with implications for molecular diagnosis and genome biology.HighlightsCryptic rearrangements revealed in repetitive and previously inaccessible regionsAligning long-reads to telomere-to-telomere assembly enabled breakpoint discoveryFirst sequence resolution of a Robertsonian translocation breakpointHaplotype-specific methylation changes associated with ring formationGraphical abstract

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“…When performing ART in humans, sperm head morphology, size, and acrosome are important criteria for sperm selection ( 32 ), as the size of the sperm head may affect the fertilization rate ( 33 ). In contrast, Zahiri and Ghasemian reported that acrosome size and morphology of sperm heads influence sperm chromatin status, fertilization rates, and clinical outcomes ( 34 , 35 ).…”

Section: Discussionmentioning

confidence: 99%

Bibliometric analysis and visualization of literature on assisted reproduction technology

et al. 2022

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IntroductionAssisted reproductive technology (ART) is a method that uses various techniques to process sperm or ova. Assisted reproductive technology involves removing ova from a woman's ovaries, combining them with sperm in the laboratory, and returning them to the woman's body or donating them to another woman.MethodsBased on the web of science core collection database, we firstly analyzed the quantity and quality of publications in the field of ART, secondly profiled the publishing groups in terms of country, institution, author's publication and cooperation network, and finally sorted out and summarized the hot topics of research.ResultsIn total, 6,288 articles on ART were published between 2001 and 2022 in 1,013 journals. Most of these published articles represent the global research status, potential hotspots and future research directions. Publications and citations of research on assisted reproductive technology have steadily increased over the past few decades. Academic institutions in Europe and the United States have been leading in assisted reproductive technology research. The countries, institutions, journals, and authors with the most published articles were the United States (1864), Harvard Univ (108), Fertility and Sterility (819), and Stern, Judy E. (64). The most commonly used keywords are Assisted reproductive technology (3303) and in-vitro Fertilization (2139), Ivf (1140), Pregnancy (1140), Women (769), Intracytoplasmic Sperm injection (644), In Fertilization (632), Risk (545), and Outcome (423).ConclusionFrozen embryo transfer, intracytoplasmic sperm injection, and in vitro fertilization are the main research topics and hotspots in the field of assisted reproductive technology.

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The normality of sperm in an infertile man with ring chromosome 15: a case report

Abstract: The karyotypes were normal without ring chromosome 15, and motile sperm with a high aspect ratio showed adequate potential for fertilization.

Cited by 7 publications

References 31 publications

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

Bibliometric analysis and visualization of literature on assisted reproduction technology

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