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  4. Non-mosaic X monosomy (77,X) in a female dog with signs of virilization
 
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Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

Type
Journal article
Language
English
Date issued
2022
Author
Szczerbal, Izabela 
Małek, Emilian 
Rigillo, Antonella
Łukomska, Anna 
Kacprzak, Kamil
Gasparini, Stefania
Nowacka-Woszuk, Joanna 
Dragan, Monika Maria 
Aksoy, Mehmet O.
Świtoński, Marek 
Faculty
Wydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
Journal
Journal of Applied Genetics
ISSN
1234-1983
DOI
10.1007/s13353-022-00739-3
Web address
https://link.springer.com/article/10.1007/s13353-022-00739-3
Volume
64
Number
1
Pages from-to
169-172
Abstract (EN)
A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization.
Subject (other)
  • aneuploidy

  • disorders of sex development

  • intersexuality

  • sex cgromosomes

License
cc-bycc-by CC-BY - Attribution
Open access date
November 28, 2022
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