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

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cris.virtual.author-orcid0000-0002-1041-3576
cris.virtual.author-orcid0000-0003-3485-1359
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cris.virtual.author-orcid0000-0003-2539-9508
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dc.abstract.enA 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.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.affiliation.instituteKatedra Nauk Przedklinicznych i Chorób Zakaźnych
dc.contributor.authorSzczerbal, Izabela
dc.contributor.authorMałek, Emilian
dc.contributor.authorRigillo, Antonella
dc.contributor.authorŁukomska, Anna
dc.contributor.authorKacprzak, Kamil
dc.contributor.authorGasparini, Stefania
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorDragan, Monika Maria
dc.contributor.authorAksoy, Mehmet O.
dc.contributor.authorŚwitoński, Marek
dc.date.access2025-07-01
dc.date.accessioned2025-11-13T12:39:48Z
dc.date.available2025-11-13T12:39:48Z
dc.date.copyright2022-11-28
dc.date.issued2022
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>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 (<jats:italic>SRY</jats:italic>,<jats:italic>ZFY</jats:italic>, and<jats:italic>TSPY1</jats:italic>) 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.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if2,0
dc.description.number1
dc.description.points140
dc.description.versionfinal_published
dc.description.volume64
dc.identifier.doi10.1007/s13353-022-00739-3
dc.identifier.eissn2190-3883
dc.identifier.issn1234-1983
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/5875
dc.identifier.weblinkhttps://link.springer.com/article/10.1007/s13353-022-00739-3
dc.languageen
dc.relation.ispartofJournal of Applied Genetics
dc.relation.pages169-172
dc.rightsCC-BY
dc.sciencecloudnosend
dc.share.typeOPEN_JOURNAL
dc.subject.otheraneuploidy
dc.subject.otherdisorders of sex development
dc.subject.otherintersexuality
dc.subject.othersex cgromosomes
dc.titleNon-mosaic X monosomy (77,X) in a female dog with signs of virilization
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.volume64