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一只具有男性化迹象的雌性犬存在 X 单体性(77,X)非嵌合体。

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

机构信息

Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.

Department of Preclinical Sciences and Infectious Diseases, Poznan University of Life Sciences, Poznan, Poland.

出版信息

J Appl Genet. 2023 Feb;64(1):169-172. doi: 10.1007/s13353-022-00739-3. Epub 2022 Nov 28.

Abstract

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.

摘要

一只 14 个月大的雌性迷你贵宾犬,其阴蒂增大且乳头位置不对称,对其进行了临床、组织病理学和遗传学研究。大体上,子宫和输卵管看起来正常,但两个卵巢均发生弥漫性改变。组织学上,卵巢实质几乎完全被弥漫性的间质细胞增生所取代,伴有初级卵泡闭锁。染色体分析显示纯(非嵌合)X 单体性(77,X)。这一发现通过高度敏感的微滴数字 PCR(ddPCR)方法得到了证实。尽管存在雄性化,分子分析并未在血液细胞或卵巢组织中发现 Y 连锁基因(SRY、ZFY 和 TSPY1)。据我们所知,这是首例与雄性化相关的犬 X 单体性病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f914/9836978/5a61cc3865c2/13353_2022_739_Fig1_HTML.jpg

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