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

被引：0

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

来源：

Journal of Applied Genetics | 2023年 / 64卷

关键词：

Aneuploidy; Disorders of sex development; Intersexuality; Sex chromosomes;

D O I：

暂无

中图分类号：

学科分类号：

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.

引用

页码：169 / 172

页数：3

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