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A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis.
J Appl Genet
May 2024
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.
A 9-year-old Thoroughbred mare with normal external genitalia and regular oestrus symptoms was gynecologically examined prior to insemination. This primary examination revealed the presence of a hypoplastic uterus and the lack of normal ovaries, and the mare was therefore subjected to more detailed diagnostics, including endocrinological, genetic, and clinical tests. Diagnostic imaging with the use of ultrasonography and endoscopy confirmed the underdevelopment of internal genitalia.
View Article and Find Full Text PDFA rare finding of double Barr bodies and X-monosomy/X-trisomy mosaicism in a dog with presumed idiopathic epilepsy.
Vet Clin Pathol
December 2023
Department of Veterinary Clinical Medicine, University of Illinois College of Veterinary Medicine, Urbana, Illinois, USA.
A 4-year-old spayed female Border Collie dog presented to the Neurology and Neurosurgery service for an approximately five-month history of seizures. A complete neurodiagnostic workup was performed and did not reveal any significant abnormalities. The patient's seizures were well controlled with a combination of anticonvulsants.
View Article and Find Full Text PDFIdentification of aneuploidy in dogs screened by a SNP microarray.
Hum Genet
November 2021
Paw Print Genetics, Genetic Veterinary Sciences, Inc, 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.
Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy-number gains and losses representing aneuploidy and aneusomy, but moreover, allow for the direct assessment of individual genotypes in known disease loci. Using these approaches, trisomies, monosomies, and mosaicism of whole chromosomes have been identified in human microarray studies.
View Article and Find Full Text PDFChromosome abnormalities in dogs with disorders of sex development (DSD).
Anim Reprod Sci
July 2021
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland. Electronic address:
Disorders of sex development (DSD) caused by chromosome abnormalities are rarely diagnosed in dogs. In this report, there is a focus on five DSD cases in which the dogs had abnormal karyotypes. All animals were recognized by owners as females, however, these dogs had a large number of reproductive defects.
View Article and Find Full Text PDFStructural and copy number chromosome abnormalities in canine cutaneous mast cell tumours.
J Appl Genet
February 2019
Central European Institute of Technology - Veterinary Research Institute, Hudcova 70, 621 00, Brno, Czech Republic.
Mast cell tumours (MCTs) are the most common skin tumours in dogs. Their clinical behaviour is variable and their aetiology remains largely unknown. We performed a metaphase fluorescence in situ hybridisation (FISH) with whole chromosome painting probes, and interphase FISH with BAC probes for 14 cancer-related genes to reveal clonal structural chromosome rearrangements and copy number variants (CNVs) in canine cutaneous MCTs.
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