sSMC

The software tool 'sSMC' is utilized in the study of small supernumerary marker chromosomes (sSMCs), which are structurally abnormal chromosomes associated with developmental and mental retardation, as well as infertility. The focus is on a male patient with oligoasthenoteratozoospermia and an sSMC on chromosome 15. The sSMC is characterized using G-banding analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH).

Data are available from the author.

Topic

DNA;Model organisms;Microarray experiment;Probes and primers

Detail

  • Operation: Variant calling

  • Software interface: -

  • Language: -

  • License: -

  • Cost: -

  • Version name: -

  • Credit: National Key Research and Development Program of China

  • Input: -

  • Output: -

  • Contact: Dr Ruizhi Liu lrz410@126.com

  • Collection: -

  • Maturity: -

Publications

  • Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report.
  • Sun M, et al. Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. 2020; 19:2927-2932. doi: 10.3892/etm.2020.8542
  • https://doi.org/10.3892/ETM.2020.8542
  • PMID: 32256778
  • PMC: PMC7086184

Download and documentation

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