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

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作者
Izabela Szczerbal
Emilian Malek
Antonella Rigillo
Anna Lukomska
Kamil Kacprzak
Stefania Gasparini
Joanna Nowacka-Woszuk
Monika Stachowiak
Mehmet O. Aksoy
Marek Switonski
机构
[1] Poznan University of Life Sciences,Department of Genetics and Animal Breeding
[2] Poznan University of Life Sciences,Department of Preclinical Sciences and Infectious Diseases
[3] San Marco Veterinary Clinic and Laboratory,Pathology Division
[4] Warsaw University of Life Sciences,Department of Small Animal Diseases and Clinic, Institute of Veterinary Medicine
[5] SFORA Veterinary Clinic,undefined
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关键词
Aneuploidy; Disorders of sex development; Intersexuality; Sex chromosomes;
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摘要
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.
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页码:169 / 172
页数:3
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