Balkan Journal of Medical Genetics

POLYPLOIDY PHENOMENON AS A CAUSE OF EARLY MISCARRIAGES IN ABORTION MATERIALS
Yildirim ME, Karakus S, Kurtulgan HK, Ozer L, Celik SB
*Corresponding Author: Malik Ejder Yildirim, Associate Professor. Department of Medical Genetics, Faculty of Medicine, Sivas Cumhuriyet University, 58104 Sivas, Turkey. Phone: 03462581085, Email: nemalik2002@gmail.com
page: 5

RESULTS

In order to detect chromosomal abnormalities, karyotyping was performed on 92 spontaneous abortion samples and aCGH was applied whenever needed. The averages of age, body mass index, gravidity, parity and miscarriage numbers of females were calculated (Table 1). The mean age of women with miscarriage was 27±4.43. Twelve of these women (13%) had a history of recurrent miscarriage. There was no growth in 23 samples (25%) due to culture failure, while the results were normal in 42 materials (45.7%). A total of 32 various numerical and structural chromosomal abnormalities and chromosomal variations were found in 27 of the cases (29.3%) (Table 2). Triploidy was the most common among them (28%) (Table 3). In terms of numerical chromosomal abnormalities, 11 polyploidy cases (2 tetraploids and 9 triploids) were found as well as 8 trisomies (one of which was mosaic) and 2 sex chromosome aneuploidies (monosomy X) in our study. Trisomies included chromosomes 9, 13, 15 (two cases), 16 (two cases), 18, and chromosome 2 as mosaic. We detected 4 translocations as structural chromosomal abnormalities. Translocations consisted of two t(9;18), one t(1;7) and one t(7;11). On the other hand, the short arm isochromosome of chromosome 6 was found in one of the cases, while another case had a deletion of the long arm of the X chromosome and both abnormalities were mosaic. Among the numerical and structural chromosomal abnormalities, the rate of polyploidy was the highest (40.7%) (Figure 1). No abnormalities were detected in the karyotype analysis of the parents of polyploidy cases. We found 5 chromosomal variations (two heterochromatin and two satellite increments and inv9) in abortion materials. Although there was no significant difference in terms of maternal age, we determined a higher paternal age in polyploidy cases than in abortions with normal karyotype. (31.2±6.4 versus 34.6±4.8 and p=0.002).

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact