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Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses

Gj Bozhinovski

Gj Bozhinovski

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North MacedoniaSkopje, North Macedonia
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Bozhinovski, Gj
, 
M Terzikj

M Terzikj

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North MacedoniaSkopje, North Macedonia
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Terzikj, M
, 
K Kubelka-Sabit

K Kubelka-Sabit

  • Clinical Hospital “Acibadem Sistina“Skopje, North Macedonia
  • Faculty of Medical Sciences, University ”Goce Delcev”Stip, North Macedonia
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Kubelka-Sabit, K
 e 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North MacedoniaSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
06 mar 2025
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Categoria dell'articolo: ORIGINAL ARTICLE
Pubblicato online: 06 mar 2025
Pagine: 23 - 32
DOI: https://doi.org/10.2478/bjmg-2024-0014
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© 2024 Bozhinovski Gj et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Figure 1. Schematic presentation of the detected chromosomal abnormalities among the affected chromosomes. (Red bars-deletions; blue bars-duplications), *chromosomal abnormalities detected together with other abnormality, see Table 1.
Figure 1. Schematic presentation of the detected chromosomal abnormalities among the affected chromosomes. (Red bars-deletions; blue bars-duplications), *chromosomal abnormalities detected together with other abnormality, see Table 1.

Figure 2.

The detected smallest overlapping regions (SORs), (Red bars-deletions; blue bars-duplications).
The detected smallest overlapping regions (SORs), (Red bars-deletions; blue bars-duplications).

Figure 3.

Molecular function profiling of recurrent genes in the studied regions.
Molecular function profiling of recurrent genes in the studied regions.

Figure 4.

An analysis of the biological processes associated with frequently occurring genes within the specified recurring regions.
An analysis of the biological processes associated with frequently occurring genes within the specified recurring regions.

Detailed genomic locations of the detected partial chromosomal abnormalities

Sample Chromosome band Start-stop positions Deletion/Duplication Length (Mbp)
1 Abp-24 3p26.3-p26.1 73914-7761159 Deletion 7.68
2 Abp-118 6p22.3-q27 20695423-170911240 Duplication 150.21
3 Abp-141 17p13.3-p13.2 59739-4424713 Duplication 4.36
18q21.2-q23 49010709-78010032 Deletion 28.99
4 Abp-154 8p23.3-p23.1 176814-12686483 Deletion 12.51
5 Abp-264 Xp22.33 169064-2344976 Duplication 2.17
6 Abp-359 11q24.2q25 127546842-134927114 Deletion 7.38
7 Abp-498 9p24.3-p23 204193_9092170 Deletion 8.88
8 Abp-565 8q24.13-q24.3 123993466-146294098 Duplication 22.3
13q14.3-q34 54627609-115089535 Deletion 60.46
9 Abp-612 3q25.33-q29 160109099-197845254 Duplication 37.73
9p24.3-p22.3 204193-14453418 Deletion 14.25
10 Abp-627 7q22.1-q34 101658846-140064713 Deletion 38.4
7q36.3 158074913-159118566 Deletion 1.04
11 Abp-760 18q12.1-q23 25698937-78010032 Deletion 52.31
12 Abp-805 1p36.33-p36.32 564424-2352253 Deletion 1.78
1p36.32p36.31 2394396-5710339 Duplication 3.31
1q21.1q44 142617943-249212668 Duplication 106.59
13 Abp-815 1p36.33-p36.13 564424-17886109 Deletion 17.32
14 Abp-840 13q13.3-q34 39536567-115093155 Deletion 75.55
16q21-q24.3 64826408-90148400 Duplication 25.32
15 Abp-882 1p36.33-p36.11 564424-24570889 Deletion 24.01
11q11-q25 55361638-134904063 Duplication 79.54
16 Abp-914 13q32.3-q34 101077865-115105297 Duplication 14.02
18q21.31-q23 55906486-78010032 Deletion 22.1
17 Abp-941 9q21.11-q34.3 70984337-141087916 Duplication 70.1
18 Abp-942 6q22.31-q27 122649716-170911237 Duplication 48.26
7p22.3-p13 45064-45032669 Deletion 44.98
19 Abp-990 1p36.33-p35.2 746608-31284865 Duplication 30.53
18q21.2-q23 49862572-78010032 Deletion 28.14
20 Abp-998 15q26.1-q26.3 93296596-102388476 Deletion 9.09
22q13.1-q13.33 37984158-51219009 Duplication 13.23
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