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Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour

Summary A 5‐year‐old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SR...

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Published in:Journal of animal breeding and genetics (1986) 2005-04, Vol.122 (s1), p.60-63
Main Authors: Switonski, M., Chmurzynska, A., Szczerbal, I., Lipczynski, A., Yang, F., Nowicka-Posłuszna, A.
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cited_by cdi_FETCH-LOGICAL-c4620-6e1a192d51c5aadefe431135e65855b6a6aab80da2512ede1eee22c8232656d63
cites cdi_FETCH-LOGICAL-c4620-6e1a192d51c5aadefe431135e65855b6a6aab80da2512ede1eee22c8232656d63
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container_issue s1
container_start_page 60
container_title Journal of animal breeding and genetics (1986)
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creator Switonski, M.
Chmurzynska, A.
Szczerbal, I.
Lipczynski, A.
Yang, F.
Nowicka-Posłuszna, A.
description Summary A 5‐year‐old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′‐ and 3′‐UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).
doi_str_mv 10.1111/j.1439-0388.2005.00510.x
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Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′‐ and 3′‐UTRs, did not reveal any differences when compared with the sequence of normal stallions. 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SRY-positive) in a mare demonstrating masculine behaviour</title><author>Switonski, M. ; Chmurzynska, A. ; Szczerbal, I. ; Lipczynski, A. ; Yang, F. ; Nowicka-Posłuszna, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4620-6e1a192d51c5aadefe431135e65855b6a6aab80da2512ede1eee22c8232656d63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Androgens</topic><topic>Animal behavior</topic><topic>Animals</topic><topic>Chromosome Aberrations - veterinary</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosome Disorders - veterinary</topic><topic>Chromosomes</topic><topic>Cytogenetic Analysis - veterinary</topic><topic>Equus caballus</topic><topic>Female</topic><topic>Gender</topic><topic>Genes</topic><topic>Genes, sry - genetics</topic><topic>Genitalia, Female - abnormalities</topic><topic>Horse Diseases - blood</topic><topic>Horse Diseases - genetics</topic><topic>Horses</topic><topic>Sequence Analysis, DNA - veterinary</topic><topic>Sexual Behavior, Animal - physiology</topic><topic>Testosterone - blood</topic><topic>X Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Switonski, M.</creatorcontrib><creatorcontrib>Chmurzynska, A.</creatorcontrib><creatorcontrib>Szczerbal, I.</creatorcontrib><creatorcontrib>Lipczynski, A.</creatorcontrib><creatorcontrib>Yang, F.</creatorcontrib><creatorcontrib>Nowicka-Posłuszna, A.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of animal breeding and genetics (1986)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Switonski, M.</au><au>Chmurzynska, A.</au><au>Szczerbal, I.</au><au>Lipczynski, A.</au><au>Yang, F.</au><au>Nowicka-Posłuszna, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sex reversal syndrome (64,XY; 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Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5′‐ and 3′‐UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).</abstract><cop>Berlin, Germany</cop><pub>Blackwell Verlag GmbH</pub><pmid>16130458</pmid><doi>10.1111/j.1439-0388.2005.00510.x</doi><tpages>4</tpages></addata></record>
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1439-0388
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subjects Androgens
Animal behavior
Animals
Chromosome Aberrations - veterinary
Chromosome Disorders - genetics
Chromosome Disorders - veterinary
Chromosomes
Cytogenetic Analysis - veterinary
Equus caballus
Female
Gender
Genes
Genes, sry - genetics
Genitalia, Female - abnormalities
Horse Diseases - blood
Horse Diseases - genetics
Horses
Sequence Analysis, DNA - veterinary
Sexual Behavior, Animal - physiology
Testosterone - blood
X Chromosome - genetics
title Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour
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