Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Ma, Na; Zhu, Zhenhua; Hu, Junfeng; Pang, Jialun; Yang, Shunli; Liu, Jing; Chen, Jing; Tang, Wanglan; Kuang, Haiyan; Hu, Rong; Li, Zhuo; Wang, Hua; Peng, Ying; Xi, Hui

doi:10.3389/fgene.2023.1121121

Cited by 4 publications

(2 citation statements)

References 29 publications

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“…The prenatal diagnosis of trisomy 9 presents challenges in genetic counseling due to the need to differentiate between pseudo-mosaicism, fetal-placental discrepancy, and true trisomy 9. Studies have demonstrated varying levels of trisomy 9 mosaicism ranging from 99% to normal in different tissues ( Tang et al, 2019 ; Ma et al, 2023 ). Trisomy 9 mosaicism tends to show different levels of mosaicism in various tissues.…”

Section: Discussionmentioning

confidence: 99%

Case report: A case report and literature review of complete trisomy 9

Xu,

Li,

Peng

et al. 2023

Front. Genet.

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Complete trisomy 9 is a rare and lethal chromosomal anomaly characterized by multisystem dysmorphism and central nervous system (CNS) malformations. This study presents a case of complete trisomy 9 with an unusual phenotypic association and investigates the genetic pathways involved in this chromosomal abnormality. Trisomy 9 leads to a wide range of organ abnormalities, and this research contributes to a better understanding of the phenotype associated with this rare aneuploidy. The literature on the phenotypes of fetuses with various systems affected by complete trisomy 9 was reviewed and summarized. Correct diagnosis and appropriate counseling based on the characteristics of previous reports of fetuses with trisomy 9 is essential in maternity care and clinical management. To provide guidance and help for clinical diagnosis, this study aimed to explore the clinical and genetic characteristics of trisomy 9 syndrome to improve clinicians’ understanding of the disease.

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Section: Discussionmentioning

confidence: 99%

Case report: A case report and literature review of complete trisomy 9

Xu,

Li,

Peng

et al. 2023

Front. Genet.

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“…RNA modification is an emerging mechanism in gene regulation. This reversible post-transcriptional modification is regulated by "writers" (methyltransferases), "readers," and "erasers" (demethylases), influencing various molecular functions [27][28][29]. Common RNA modifications include m6A, m5C, m1A, and m7G [30][31][32].…”

Section: Relationship Between Pidg Score and Methylation Modificationsmentioning

confidence: 99%

Molecular Characterization and Establishment of a Prognostic Model Based on Primary Immunodeficiency Features in Association with RNA Modifications in Triple-Negative Breast Cancer

Xia,

Xu,

Guo

et al. 2023

Genes

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Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer. Although immunotherapy is effective for some patients, most find it difficult to benefit from it. This study aims to explore the impact of specific immune pathways and their regulated molecular mechanisms in TNBC. The gene expression data of breast cancer patients were obtained from the TCGA and METABRIC databases. Gene set variation analysis (GSVA) revealed specific upregulation or abnormal expression of immunodeficiency pathways in TNBC patients. Multi-omics data showed significant differential expression of Primary Immunodeficiency Genes (PIDGs) in TNBC patients, who are prone to genomic-level variations. Consensus clustering was used in two datasets to classify patients into two distinct molecular subtypes based on PIDGs expression patterns, with each displaying different biological features and immune landscapes. To further explore the prognostic characteristics of PIDGs-regulated molecules, we constructed a four-gene prognostic PIDG score model and a nomogram using least absolute shrinkage and selection operator (LASSO) regression analysis in combination with clinicopathological parameters. The PIDG score was closely associated with the immune therapy and drug sensitivity of TNBC patients, providing potential guidance for clinical treatment. Particularly noteworthy is the close association of this scoring with RNA modifications; patients with different scores also exhibited different mutation landscapes. This study offers new insights for the clinical treatment of TNBC and for identifying novel prognostic markers and therapeutic targets in TNBC.

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The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review

Militaru,

Babliuc,

Bloaje-Florică

et al. 2024

JPM

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Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and prognosis of the pregnancy, and then the newborn, is usually not possible, genetic counseling can offer valuable insights into genetic disorders. Chromosomal mosaicisms are genetic anomalies that affect only some cell lines in either the fetus or the placenta or both. They can affect autosomal or heterosomal chromosomes, and they can be either numerical or structural. The prognosis seems to be more severe if the genetic alterations are accompanied by malformations visible in ultrasounds. Several genetic techniques can be used to diagnose certain mosaicisms, depending on their nature. A novel approach in prenatal care is non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing (NIPT), which, although it does not always have diagnostic value, can provide valuable information about potential genetic anomalies, especially numerical, with high sensitivity (Se).

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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Cited by 4 publications

References 29 publications

Case report: A case report and literature review of complete trisomy 9

Case report: A case report and literature review of complete trisomy 9

Molecular Characterization and Establishment of a Prognostic Model Based on Primary Immunodeficiency Features in Association with RNA Modifications in Triple-Negative Breast Cancer

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review

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