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Origin of Chromosome 12 Trisomy Surge in Human Induced Pluripotent Stem Cells (iPSCs).
bioRxiv
December 2024
Program in Cell Cycle and Cancer Biology, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Cultured pluripotent stem cells are unique in being the only fully diploid immortal human cell lines. However, during continued culture they can acquire significant chromosome abnormalities. Chromosome 12 trisomy is the most common whole-chromosome abnormality found during culture of human induced pluripotent stem cells (iPSCs).
View Article and Find Full Text PDFAn infant with trisomy 9 and partial trisomy 12 derived from maternal balanced translocation: A case report and literature review.
J Int Med Res
November 2024
Department of Laboratory Medicine, Wuzhou Gongren Hospital, 1Gaodi Road, Wuzhou, 543001, Guangxi, China.
We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis using the GTG-banding technique. The mother was a carrier of a balanced chromosomal translocation of 46, XX, t(9;12)(q13;p11.
View Article and Find Full Text PDFEpilepsy, EEG and chromosomal rearrangements.
Epilepsia Open
August 2024
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Article Synopsis
- Chromosomal abnormalities can lead to various clinical issues, with epilepsy being one of the most common manifestations, where the type and severity of seizures depend on specific chromosomal rearrangements.
- The study focused on identifying electroencephalographic patterns related to specific chromosomal disorders, but no unique electroclinical biomarkers were found that consistently indicated a particular rearrangement.
- The review also highlighted various chromosomal microdeletions and duplications associated with different types of seizures and syndromes, emphasizing the complexity and variability in clinical presentations among patients with chromosomal anomalies.
Article Synopsis
- * Three new recurring KMT2A-rearranged groups were identified, and a significant variation in 5-year event-free survival rates was observed across 13 different groups, highlighting the impact of genetic factors on patient outcomes.
- * The research suggests incorporating five specific adverse-risk KMT2A fusions into current risk stratification models and calls for further studies to confirm the associations
Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights.
Front Oncol
March 2024
Division of Hematology, Department of Internal Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.
Background: Aplastic anemia (AA), characterized by hematopoietic stem cell deficiency, can evolve into different hematologic malignancies. Our understanding of the genetic basis and mechanisms of this progression remains limited.
Methods: We retrospectively studied 9 acquired AA patients who later developed hematologic malignancies.
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