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Disorder of sexual development in a mare with an unusual tentative mosaic karyotype (63,X/64,XYdel)


Neuhauser, Stefanie; Handler, Johannes; Schelling, Claude; Pienkowska-Schelling, Aldona (2018). Disorder of sexual development in a mare with an unusual tentative mosaic karyotype (63,X/64,XYdel). Sexual Development, 12:232-238.

Abstract

The present report describes a 4-year-old Trakehner mare which was referred to the clinic for a breeding soundness evaluation. Clinical, histological, and postmortem examination revealed an underdeveloped genital tract, the absence of a cervix uteri, and small inactive ovaries without male gonadal tissue. Blood lymphocyte analysis revealed an unusual mosaic karyotype consisting of 2 cell lines. For the majority of cells (70%), monosomy X (63,X) was observed. The remaining cells (30%) contained 64 chromosomes including one X chromosome and a small rudimentary Y chromosome consisting mostly of heterochromatin. The centromere was retained, but its full functionality was questionable. PCR analysis revealed that the entire male-specific region of Y (Yq14), including the SRY gene, was deleted. It remained unclear if the pseudoautosomal region (Yq15) and parts of the heterochromatic region (Yq13) were affected by this deletion. The phenotype of the mare with this disorder of sex development associated with sex chromosome abnormalities is genetically comparable to 63,X monosomy which fully explains the clinical findings.

Abstract

The present report describes a 4-year-old Trakehner mare which was referred to the clinic for a breeding soundness evaluation. Clinical, histological, and postmortem examination revealed an underdeveloped genital tract, the absence of a cervix uteri, and small inactive ovaries without male gonadal tissue. Blood lymphocyte analysis revealed an unusual mosaic karyotype consisting of 2 cell lines. For the majority of cells (70%), monosomy X (63,X) was observed. The remaining cells (30%) contained 64 chromosomes including one X chromosome and a small rudimentary Y chromosome consisting mostly of heterochromatin. The centromere was retained, but its full functionality was questionable. PCR analysis revealed that the entire male-specific region of Y (Yq14), including the SRY gene, was deleted. It remained unclear if the pseudoautosomal region (Yq15) and parts of the heterochromatic region (Yq13) were affected by this deletion. The phenotype of the mare with this disorder of sex development associated with sex chromosome abnormalities is genetically comparable to 63,X monosomy which fully explains the clinical findings.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:05 Vetsuisse Faculty > Veterinary Clinic > Department of Farm Animals
05 Vetsuisse Faculty > Institute of Virology
Dewey Decimal Classification:570 Life sciences; biology
630 Agriculture
Scopus Subject Areas:Health Sciences > Endocrinology, Diabetes and Metabolism
Health Sciences > Embryology
Life Sciences > Developmental Biology
Uncontrolled Keywords:DSD; Horse; Mosaic; Sex chromosome; Y chromosome deletion
Language:English
Date:3 August 2018
Deposited On:13 Feb 2019 11:54
Last Modified:29 Jul 2020 10:15
Publisher:Karger
ISSN:1661-5425
OA Status:Green
Publisher DOI:https://doi.org/10.1159/000490861
PubMed ID:30071527

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