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Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses Cover

Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 2 (December 2024)
By:
Open Access
|Mar 2025

Figures & Tables

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

SampleChromosome bandStart-stop positionsDeletion/DuplicationLength (Mbp)
1Abp-243p26.3-p26.173914-7761159Deletion7.68
2Abp-1186p22.3-q2720695423-170911240Duplication150.21
3Abp-14117p13.3-p13.259739-4424713Duplication4.36
18q21.2-q2349010709-78010032Deletion28.99
4Abp-1548p23.3-p23.1176814-12686483Deletion12.51
5Abp-264Xp22.33169064-2344976Duplication2.17
6Abp-35911q24.2q25127546842-134927114Deletion7.38
7Abp-4989p24.3-p23204193_9092170Deletion8.88
8Abp-5658q24.13-q24.3123993466-146294098Duplication22.3
13q14.3-q3454627609-115089535Deletion60.46
9Abp-6123q25.33-q29160109099-197845254Duplication37.73
9p24.3-p22.3204193-14453418Deletion14.25
10Abp-6277q22.1-q34101658846-140064713Deletion38.4
7q36.3158074913-159118566Deletion1.04
11Abp-76018q12.1-q2325698937-78010032Deletion52.31
12Abp-8051p36.33-p36.32564424-2352253Deletion1.78
1p36.32p36.312394396-5710339Duplication3.31
1q21.1q44142617943-249212668Duplication106.59
13Abp-8151p36.33-p36.13564424-17886109Deletion17.32
14Abp-84013q13.3-q3439536567-115093155Deletion75.55
16q21-q24.364826408-90148400Duplication25.32
15Abp-8821p36.33-p36.11564424-24570889Deletion24.01
11q11-q2555361638-134904063Duplication79.54
16Abp-91413q32.3-q34101077865-115105297Duplication14.02
18q21.31-q2355906486-78010032Deletion22.1
17Abp-9419q21.11-q34.370984337-141087916Duplication70.1
18Abp-9426q22.31-q27122649716-170911237Duplication48.26
7p22.3-p1345064-45032669Deletion44.98
19Abp-9901p36.33-p35.2746608-31284865Duplication30.53
18q21.2-q2349862572-78010032Deletion28.14
20Abp-99815q26.1-q26.393296596-102388476Deletion9.09
22q13.1-q13.3337984158-51219009Duplication13.23
DOI: https://doi.org/10.2478/bjmg-2024-0014 | Journal eISSN: 2199-5761
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Language: English
Page range: 23 - 32
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year
Keywords:
Partial fetal chromosomal abnormalities,
early pregnancy loss,
EPLs,
aCGH
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2025 Gj Bozhinovski, M Terzikj, K Kubelka-Sabit, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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