{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:35:21Z","timestamp":1762079721683,"version":"build-2065373602"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T00:00:00Z","timestamp":1581465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005685","name":"Department of Genetics, University of Alabama at Birmingham","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005685","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005857","name":"Uniwersytet Przyrodniczy w Poznaniu","doi-asserted-by":"publisher","award":["506.534.05.00"],"award-info":[{"award-number":["506.534.05.00"]}],"id":[{"id":"10.13039\/501100005857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["beva.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Equine Veterinary Journal"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>X monosomy is the most common disorder of sex development in horses. Although cytogenetic analysis is still the gold standard in the diagnosis of equine X monosomy, novel molecular techniques are being sought to quickly and reliably detect this chromosome abnormality.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The goal of this study was to evaluate the usefulness of a novel variant of the PCR technique\u2014namely, droplet digital PCR (ddPCR)\u2014in the detection of X monosomy in mares.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study design<\/jats:title>\n                    <jats:p>A proof of concept of the usefulness of ddPCR in diagnosing an abnormal number of X chromosomes in mares.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We examined an infertile mare using cytogenetic (fluorescent in situ hybridisation\u2014FISH) and molecular (droplet digital PCR\u2014ddPCR) techniques. The X chromosome copy number in ddPCR was estimated via detection of the\n                      <jats:italic>AMELX<\/jats:italic>\n                      gene copy number. In addition, 70 mares homozygous for X\u2010linked microsatellite marker (\n                      <jats:italic>LEX3<\/jats:italic>\n                      ) were examined by ddPCR. For all mares, a PCR search for the Y\u2010linked\n                      <jats:italic>SRY<\/jats:italic>\n                      gene was also performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Cytogenetic analysis and ddPCR gave concordant results, indicating pure X monosomy in the studied mare. Of the 70 additional mares examined by ddPCR, a single copy of the X chromosome was found in two cases. All mares were\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010negative and thus both freemartinism, manifested by leucocyte XX\/XY chimerism, and sex reversal syndrome (XX,\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010positive) could be excluded.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main limitations<\/jats:title>\n                    <jats:p>The ddPCR approach does not allow for unequivocal identification of mosaicism (63,X\/64,XX or 65,XXX\/64,XX), but may give an indication that further cytogenetic analysis is necessary.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The ddPCR approach appeared to be useful for diagnosing nonmosaic X monosomy in mares. If the number of X chromosome copies in a mare, as determined by ddPCR, differs from two (in our study, &lt;1.8 or &gt;2.2), additional cytogenetic investigation is recommended with the aim of detecting the mosaicism.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/evj.13214","type":"journal-article","created":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T01:06:00Z","timestamp":1575335160000},"page":"627-631","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Application of droplet digital PCR in diagnosing of X monosomy in mares"],"prefix":"10.1111","volume":"52","author":[{"given":"Izabela","family":"Szczerbal","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Nowacka\u2010Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Kopp\u2010Kuhlman","sequence":"additional","affiliation":[{"name":"Veterinary Clinic Degerby Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariusz","family":"Mackowski","sequence":"additional","affiliation":[{"name":"Department of Horse Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2539-9508","authenticated-orcid":false,"given":"Marek","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan 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