مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

video

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

sound

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Persian Version

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

View:

174
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Download:

85
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Cites:

Information Journal Paper

Title

Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS

Pages

  109-114

Abstract

 Background: Chromosomal abnormalities are a significant cause of human disor-ders. The characterization of such abnormalities helps in the identification of known/ new genes. The purpose of the present study was to identify the cause of miscarriag-es in a couple by using combined molecular and cytogenetic techniques. Case Presentation: In this study, the clinical, cytogenetic and molecular cytogenetic evaluations were performed on a couple with recurrent miscarriages. Several meth-ods like GTG banding, silver nitrate (NOR) staining, fluorescence in-situ hybridiza-tion (FISH) using whole chromosome paint probes (WCP) and bacterial artificial chromosome (BAC) clones were used. The chromosomal analysis on the metaphases revealed a karyotype of 46, XX in the wife and 46, XY, 13p+ in her husband. To check the Satellites on 13p region, NOR was performed which showed absence of Satellites and presence of euchromatic material. On careful analysis, the Satellites were observed on 11q terminal region. Thus, a balanced reciprocal translocation was detected which was confirmed by WCP and Acro-P-arm FISH. Fine mapping with BAC clones narrowed down the breakpoint regions. Conclusion: The application of the combined cytogenetic methods especially NOR helped in identification of the balanced reciprocal translocation with subsequent sys-tematic characterization and the breakpoint regions were identified. The characteri-zation of the breakpoint regions helped in identification of the carrier status which further paved the way for understanding the cause of recurrent miscarriages and proper genetic counseling.

Cites

  • No record.

    • References

  • No record.

    • Cite

    APA: Copy

    DUTTA, USHA R., Swamy, Venugopala, PONNALA, RAJITHA, Aggarwal, Shagun, & DALAL, ASHWIN. (2019). Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS. JOURNAL OF REPRODUCTION AND INFERTILITY, 20(2), 109-114. SID. https://sid.ir/paper/723627/en

    Vancouver: Copy

    DUTTA USHA R., Swamy Venugopala, PONNALA RAJITHA, Aggarwal Shagun, DALAL ASHWIN. Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS. JOURNAL OF REPRODUCTION AND INFERTILITY[Internet]. 2019;20(2):109-114. Available from: https://sid.ir/paper/723627/en

    IEEE: Copy

    USHA R. DUTTA, Venugopala Swamy, RAJITHA PONNALA, Shagun Aggarwal, and ASHWIN DALAL, “Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS,” JOURNAL OF REPRODUCTION AND INFERTILITY, vol. 20, no. 2, pp. 109–114, 2019, [Online]. Available: https://sid.ir/paper/723627/en

    Related Journal Papers

  • No record.

    • Related Seminar Papers

  • No record.

    • Related Plans

  • No record.

    • Recommended Workshops






    Move to top
    telegram sharing button
    whatsapp sharing button
    linkedin sharing button
    twitter sharing button
    email sharing button
    email sharing button
    email sharing button
    sharethis sharing button