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Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein-A Nationwide Study.
Prenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.
J Appl Genet
January 2025
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used.
View Article and Find Full Text PDFReproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for Medical Genetics Professionals.
Curr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFStructural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.
Genes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
View Article and Find Full Text PDF22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
Genes (Basel)
January 2025
Section of Cytogenetics, Oncology Department, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.
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