Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Contribution of chromosomal aneuploidy and submicroscopic copy number variations (CNVs) in recurrent pregnancy loss (RPL)

ABSTRACT: This study investigates the contribution of chromosomal aneuploidy and submicroscopic copy number variations (CNVs) in recurrent pregnancy loss (RPL). Genomic DNA from RPOC samples was analyzed using high-resolution Agilent aCGH arrays (180K). Several clinically relevant CNVs, including deletions and amplifications affecting immune-related and developmental genes, were identified. This suggests a genetic predisposition underlying some cases of RPL.

ORGANISM(S): Homo sapiens

PROVIDER: GSE335495 | GEO | 2026/06/19

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other
	GSE335495_RAW.tar	Raw
	filelist.txt	Txt

Items per page:

1 - 3 of 3

Similar Datasets

De Novo Copy Number Variations (CNVs) in ESC Derived from Intact and ST Blastocysts

Project description:Because ST embryos may be at risk of procedure related chromosomal or sub-chromosomal abnormalities, we biopsied and examined expanded blastocysts derived from ST and control embryos. We examined copy number variations (CNVs) by SNP array to explore possible subchromosomal abnormalities (deletion or duplication) in selected ST ESCs. De novo CNVs were detected in both ST and intact controls but none carried clinical significance (Table S3 in the Supplementary Appendix).

2016-10-14 | GSE87897 | GEO

Affymetrix SNP-array data for fetal tissue from recurrent pregnancy loss patients

Project description:Background. Recurrent pregnancy loss (RPL) is often associated with genetic factors. This study investigates chromosomal abnormalities in RPL by analyzing copy number variations (CNVs) and single nucleotide variants (SNVs). Methods. We conducted a retrospective analysis of 400 RPL patients, with 393 successfully analyzed using CNV-seq and SNP-array after excluding maternal cell contamination (MCC). Additionally, 16 families with normal results underwent whole exome sequencing (WES). Results. Among the patients, 187 (47.6%) showed normal results, while 206 (52.4%) exhibited abnormalities, including 152 aneuploidies (73.8%), 37 CNVs (18.0%), and 17 triploidies (8.3%). Statistical analysis revealed a significant increase in chromosomal abnormalities with advancing maternal age, but no significant differences in rates were observed before 24 weeks of pregnancy in patients with two or more miscarriages. We identified 28 pathogenic (P) / likely pathogenic (LP) CNVs and 6 P / LP SNVs, implicating 808 morbid genes. Enrichment analysis and protein-protein interaction (PPI) network construction revealed 69 key genes in critical pathways, with IL6, TNF, and ACTB as hub genes. Discussion. These findings contribute to establishing genetic markers for RPL screening in the Chinese population, enhancing our understanding of miscarriage etiology and facilitating prenatal diagnosis.

2025-11-25 | GSE310872 | GEO

Proteomics investigation of alterations driven by 7q11.23 CNVs in neurons

Project description:Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup), two neurodevelopmental disorders with both shared and symmetrically opposite cognitive-behavioral phenotypes. Here, we profiled the proteomes of isogenic Ngn2-driven neurons that recapitulate the three dosages of 7q11.23 (hemiduplicated, control and hemideleted).

2024-10-17 | PXD035276 | Pride

Genome-wide CNVs within and between breeds

2011-03-31 | GSE26170 | GEO

Gene copy number variations involved in balsam poplar (Populus balsamifera L.) adaptive variations

Project description:Gene copy number variations (CNVs) involved in phenotypic variations have already been shown in plants, but genome-wide testing of CNVs for adaptive variation was not doable until recent technological developments. Thus, reports of the genomic architecture of adaptation involving CNVs remain scarce to date. Here, we investigated F1 progenies of an intra-provenance cross (north-north cross, 58th parallel) and an inter-provenances cross (north-south cross, 58th/49th parallels) for CNVs using comparative genomic hybridization on arrays of probes targeting gene sequences in balsam poplar (Populus balsamifera L.), a wide-spread North American forest tree. Results: A total of 1,721 genes were found in varying copy numbers over the set of 19,823 tested genes. These gene CNVs presented an estimated average size of 8.3 kb and were distributed over poplar’s 19 chromosomes including 22 hotspot regions. Gene CNVs number was higher for the inter-provenance progeny in accordance with an expected higher genetic diversity related to the composite origin of this family. Regression analyses between gene CNVs and seven adaptive trait variations resulted in 23 significant links; among these adaptive gene CNVs, 30% were located in hotspots. One-to-five gene CNVs were found related to each of the measured adaptive traits and annotated for both biotic and abiotic stress responses. These annotations can be related to the occurrence of a higher pathogenic pressure in the southern parts of balsam poplar’s distribution, and higher photosynthetic assimilation rates and water-use efficiency at high-latitudes. Overall, our findings suggest that gene CNVs typically having higher mutation rates than SNPs, may in fact represent efficient adaptive variations against fast-evolving pathogens.

2018-09-11 | GSE119764 | GEO

Genome-wide CNVs within and between breeds

Project description:This study used two different NimbleGen platforms to identify canine CNVs. The first identifies genome-wide CNVs while the second genotypes all known canine CNVs in a large panel of dogs from multiple breeds. The genome-wide microarray used was designed by NimbleGen. The genotyping chip was created by tiling all available probes to all known CNVs identified here and in previous studies.

2011-03-31 | E-GEOD-26170 | biostudies-arrayexpress

Gene CNVs genetically mapped and linked to adaptation in spruce

Project description:Following previous work, we extend the use of a reliable detection method to a wide progeny in white spruce in order to genetically map a maximum of inherited gene CNVs and linked those to phenotypic traits related to adaptation. We selected probes targeting 3911 genes likely in CNV in this progeny and performed genetic mapping for those harboring a 1:1 segregation. In addition, the link between gene CNVs and phenotypic variation was tested using budburst, budset and growth data for the same samples. Results: We genetically mapped 82 gene CNVs inherited from the previous generation and harboring the expected segregation ratio. This mapping allowed to delineate a few hotspots of CNV that are likely shared with other conifer species. In addition, individual-specific gene CNVs likely representing de novo variation supported the hypothesis of a purifying selection against copy losses. Finally, 29 gene CNVs were significantly associated to adaptive trait variation; 13 were located on the genetic map, including 4 located within hotspots of CNVs.

2017-07-26 | GSE101876 | GEO

CNVs in spermatogenic failure

Project description:To determine the involvement of Copy Number Variants (CNVs) in the origin of male infertility, patients with idiopathic severe oligozoospermia, Sertoli-cell-only syndrome and controls with normozoospermia were analysed by array CGH using the 244A/400K array sets (Agilent Technologies).

2011-03-17 | GSE27965 | GEO

Canine CNVs associated with canFam2 segmental duplications

Project description:Canine CNVs associated with canFam2 segmental duplications

| PRJNA109559 | ENA

Transcriptome data and CNVs for Sus scrofa

Project description:Transcriptome data and CNVs for Sus scrofa

| PRJNA510070 | ENA