ArticleScientific reports2015
Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Impact of sperm fractionation on chromosome positioning, chromatin integrity, DNA methylation, and hydroxymethylation level.Cellular & molecular biology letters · 2025Article
- Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study.Case reports in medicine · 2025Article
- Trisomies Reorganize Human 3D Genome.International journal of molecular sciences · 2023Article
- Human live spermatozoa morphology assessment using digital holographic microscopy.Scientific reports · 2022Article
- The effect of chromosome abnormalities on expression of SnoRNA in radioresistant and radiosensitive cell lines after irradiation.Cancer biomarkers : section A of Disease markers · 2022Article
- Evaluation of Chromosomal Structural Anomalies in Fertility Disorders.Medicina (Kaunas, Lithuania) · 2021Article
- How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?Cellular and molecular life sciences : CMLS · 2020Review
- Article
- Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.Journal of assisted reproduction and genetics · 2020Review
- Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.BMC medical genetics · 2020Article
- Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes.Journal of assisted reproduction and genetics · 2019Article
- The effect of Robertsonian translocations on the intranuclear positioning of NORs (nucleolar organizing regions) in human sperm cells.Scientific reports · 2019Article
- Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT).BMC medical genomics · 2019Article
- Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.Molecular cytogenetics · 2019Article
- Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.Scientific reports · 2017Article
- Topology of chromosome centromeres in human sperm nuclei with high levels of DNA damage.Scientific reports · 2016Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(-)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(-) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 - 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient's sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.
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