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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 PDFInfluence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing.
Mol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
Genotyping-by-sequencing uncovers a Thinopyrum 4StS·1JS Robertsonian translocation linked to multiple stress tolerances in bread wheat.
Theor Appl Genet
December 2024
Hungarian Research Network (HUN-REN), Centre for Agricultural Research, Agricultural Institute, Martonvásár, 2462, Hungary.
GBS read coverage analysis identified a Robertsonian chromosome from two Thinopyrum subgenomes in wheat, conferring leaf and stripe rust resistance, drought tolerance, and maintaining yield stability. Agropyron glael (GLAEL), a Thinopyrum intermedium × Th. ponticum hybrid, serves as a valuable genetic resource for wheat improvement.
View Article and Find Full Text PDFThe Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFParental balanced translocation carriers do not have decreased usable blastulation rates or live birth rates compared with infertile controls.
Fertil Steril
November 2024
Instituto Valenciano de Infertilidad and Reproductive Medicine Associates Global Research Alliance, Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Article Synopsis
- The study aimed to compare the number of usable blastocysts between balanced translocation carriers and infertile controls undergoing IVF.
- There were no significant differences in outcomes like usable blastulation rates, number of oocytes retrieved, or live birth rates between the two groups.
- The primary finding showed that while blastulation rates were slightly lower for translocation carriers (59.5% vs. 62.1%), the rates of usable blastocysts remained similar at 47.2% for carriers and 50.0% for controls.
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