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Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Transient abnormal myelopoiesis (TAM) generally affects newborns with Down syndrome and is associated with constitutional trisomy 21 and a somatic GATA1 mutation. Here we describe a case of TAM which evolved after umbilical cord blood transplantation (UCBT), whose origin was identified as a GATA1 mutation-harboring clone in umbilical cord blood (UCB) by detailed genetic analyses. A 58-year-old male who received UCBT for peripheral T-cell lymphoma presented progressive anemia and thrombocytopenia, and leukocytosis with blast cells in the peripheral blood (PB).
View Article and Find Full Text PDFConstitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.
Am J Med Genet A
December 2024
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.
View Article and Find Full Text PDFCauses of Hospitalization in Children with Down Syndrome.
Medicina (Kaunas)
September 2024
Department of Pediatrics, Botucatu Medical School, São Paulo State University (UNESP), Botucatu 18618-000, São Paulo, Brazil.
: Down syndrome (DS) is the most common chromosomal disorder in the world. It is caused by the imbalance of the chromosomal constitution of 21 by free trisomy, translocation or mosaicism. Children and adolescents with Down syndrome have immune dysregulation and are more susceptible to infections.
View Article and Find Full Text PDFThe Discovery of Common Chromosome Aneuploidies with Medical Implications Through Innovative Analysis of Ancient DNA (aDNA).
J Assoc Genet Technol
January 2024
The Journal of the Association of Genetic Technologists.
Article Synopsis
- Two recent studies analyzed old genetic data from prehistoric and historic Europeans, discovering several chromosomal disorders that are also seen in modern humans, such as trisomy 18 and 21, Klinefelter syndrome, and others.
- These findings not only enhance our understanding of past human populations but also encourage further investigations into ancient genetic conditions and their implications for modern medicine.
- By examining ancient DNA, researchers can also gain insights into the social and historical contexts of individuals with these genetic disorders, potentially tracing the evolutionary history of modern genetic diseases.
Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.
J Clin Med
June 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Article Synopsis
- Preimplantation genetic testing for aneuploidies (PGT-A) is commonly used in assisted reproduction, but surprisingly, it doesn't significantly enhance clinical outcomes due to discrepancies between PGT-A results and the actual chromosomal makeup of blastocysts.
- A study analyzed 23 blastocysts from 17 couples, where PGT-A revealed chromosomal imbalances, by re-biopsying the trophectoderm (TE) and separately examining the inner cell mass (ICM).
- Out of the 23 cases, only 8 had consistent PGT-A results with re-biopsy findings, while 4 showed partial discordance, indicating the complexity of accurately assessing chromosomal status in embryos.
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