DELINEATION OF PARTIAL CHROMOSOMAL ABNORMALITIES IN EARLY PREGNANCY LOSSES
Bozhinovski Gj1, Terzikj M1, Kubelka-Sabit K2,3, Plaseska-Karanfilska D1,*
*Corresponding Author: *Corresponding Author: Prof. Dijana Plaseska-Karanfilska, M.D., Ph.D. Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000, Skopje, Republic of North Macedonia. Tel: +389-2-3235-410 E-mail: dijana@manu.edu.mk
page: 23
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CONCLUSION
In conclusion, our study provides valuable insights
into the partial chromosomal abnormalities associated with
EPLs. The identification of recurrent CNV regions and
their associated genes represents a significant step towards
understanding the complex genetic etiology of this condi-
tion. Although, subtelomeric MLPA reliably detects telo-
meric partial chromosomal abnormalities in EPLs, aCGH
is essential for detection and precise characterization of all
CNVs, thus enhancing diagnostic and counseling strategies
in affected couples.
Acknowledgments
We thank all gynecologists and couples that contrib-
uted to this study.
Ethics Committee Approval
The study was conducted according to the guidelines
of the Declaration of Helsinki, and approved by the Eth-
ics Committee of the Macedonian Academy of Science
and Arts (09-1047/6 from 04.05.2016). Written informed
consent was obtained from all study participants.
Author Contributions
Concept-Gj.B.; D.P.K; Design-D.P.K; Supervision-
D.P.K; Materials-K.K.S.; Data Collection-Gj.B, M.T,
K.K.S.; Analysis and Interpretation-Gj.B, M.T.; Litera-
ture Review- Gj.B, D.P.K.; Writing-Gj.B, D.P.K.; Critical
Review-Gj.B, M.T., K.K.S., D.P.K.
Conflict of Interest
The authors declared no conflict of interest.
Funding
Funded by Macedonian Academy of Sciences and
Arts project: Molecular basis of spontaneous abortion,
project number: 08-707 to DPK.
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