{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:43:21Z","timestamp":1790505801720,"version":"4.1.0"},"reference-count":29,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T00:00:00Z","timestamp":1570665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>The Disorders of Sex Development (DSDs) are congenital conditions characterized by inconsistency among chromosomal, gonadal, and anatomical sex development. The aim of this research is to report the clinical and cytogenetic findings of four DSD cases and 13 couples of heterosexual twins in sheep. To this purpose, C- and R-banding techniques were used, and the analyses of the SRY (Sex Determining Region Y) and AMEL (Amelogenin) genes were carried out. Moreover, morphopathological analyses were performed in one case. The four DSD sheep cases were registered as females at birth, and for none of them it was possible to establish whether the subjects were born from heterosexual multiple births. Three of the four cases were diagnosed as XX\/XY blood lymphocyte chimaeras, while the fourth case was diagnosed as a 54, XY SRY-positive DSD sheep. None of the heterosexual twins showed XX\/XY blood chimaerism. This finding suggests that the blood chimaeric cases detected could also be due to a zygote\/embryo fusion. Moreover, no gene variants involved in sheep DSD are known, the identification of which would be very useful for the sheep industry.<\/jats:p>","DOI":"10.3390\/ani9100776","type":"journal-article","created":{"date-parts":[[2019,10,11]],"date-time":"2019-10-11T03:07:11Z","timestamp":1570763231000},"page":"776","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4018-8007","authenticated-orcid":false,"given":"Sara","family":"Albarella","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"D\u2019Anza","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Galdiero","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9185-9579","authenticated-orcid":false,"given":"Luigi","family":"Esposito","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"De Biase","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando","family":"Paciello","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9881-1420","authenticated-orcid":false,"given":"Francesca","family":"Ciotola","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Peretti","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Albarella, S., Ciotola, F., D\u2019Anza, E., Coletta, A., Zicarelli, L., and Peretti, V. (2017). Congenital Malformations in River Buffalo (Bubalus bubalis). Animals (Basel), 7.","DOI":"10.3390\/ani7020009"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus statement on management of intersex disorders","volume":"118","author":"Lee","year":"2006","journal-title":"Pediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1159\/000118738","article-title":"Cytogenetic screening of livestock populations in Europe: An overview","volume":"120","author":"Ducos","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1159\/000118752","article-title":"Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep","volume":"120","author":"Brace","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"858","DOI":"10.4142\/jvs.2018.19.6.858","article-title":"Freemartinism in replacement ewe-lambs of the Ripollesa sheep breed","volume":"19","author":"Casellas","year":"2018","journal-title":"J. Vet. Sci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1159\/000245911","article-title":"Classical and molecular cytogenetics of disorders of sex development in domestic animals","volume":"126","author":"Parma","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1046\/j.1439-0388.2001.00274.x","article-title":"High frequency of lymphocyte chimerism XX\/XY and an analysis of hereditary occurrence of placental anastomoses in Booroola sheep","volume":"118","author":"Keszka","year":"2001","journal-title":"J. Anim. Breed. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1601-5223.1996.t01-1-00107.x","article-title":"Evidence on hereditary occurrence of placental anastomoses in heterosexual twins in sheep","volume":"124","author":"Szatkowska","year":"1996","journal-title":"Hereditas"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.jevs.2018.06.016","article-title":"Diagnosis of XX\/XY Blood Cell Chimerism at a Low Percentage in Horses","volume":"69","author":"Albarella","year":"2018","journal-title":"J. Equine Vet. Sci."},{"key":"ref_10","unstructured":"Basrur, P.K., and McKinnon, A.O. (1986). Caprine intersex and freemartins. Current Therapy in Theriogenology, WB Saunders."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/j.1439-0272.1992.tb02667.x","article-title":"Andrological study of an intersex ram","volume":"24","author":"Vallenzasca","year":"1992","journal-title":"Andrologia"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0034-5288(18)32013-7","article-title":"An XO\/XX mosaic sheep with associated gonadal dysgenesis","volume":"36","author":"Baylis","year":"1984","journal-title":"Res. Vet. Sci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1159\/000130031","article-title":"Cytogenetical analysis of an ovine male pseudohermaphrodite and the possible role of the Y chromosome in cryptorchidism of sheep","volume":"8","author":"McDonald","year":"1969","journal-title":"Cytogenetics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000131589","article-title":"A 53, X female sheep (Ovis aries)","volume":"30","author":"Zartman","year":"1981","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1159\/000253308","article-title":"A case of ovine female XY sex reversal syndrome not related to anomalies in the sex-determining region Y (SRY)","volume":"126","author":"Ferrer","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1159\/000056917","article-title":"International System for Chromosome Nomenclature of Domestic Bovids (ISCNDB 2000)","volume":"92","author":"Cribiu","year":"2001","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_17","first-page":"6","article-title":"X- and Y-chromosome specific variants of the amelogenin gene allow sex determination in sheep (Ovis aries) and European red deer (Cervus elaphus)","volume":"16","author":"Pfeiffer","year":"2005","journal-title":"BMC Genet."},{"key":"ref_18","first-page":"67","article-title":"Clinical and cytogenetic studies in intersex ewes","volume":"1","author":"Santucciu","year":"2006","journal-title":"Caryologia"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.anireprosci.2004.09.008","article-title":"The freemartin syndrome: An update","volume":"87","author":"Padula","year":"2005","journal-title":"Anim. Reprod. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1159\/000117716","article-title":"XX\/XY chimerism in cattle: Clinical and cytogenetic studies","volume":"2","author":"Peretti","year":"2008","journal-title":"Sex Dev."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1159\/000118751","article-title":"Sex chromosome abnormalities and sterility in river buffalo","volume":"120","author":"Perucatti","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1159\/000081531","article-title":"Freemartinism in river buffalo: Clinical and cytogenetic observations","volume":"108","author":"Iannuzzi","year":"2005","journal-title":"Cytogenet. Genome Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.smallrumres.2015.09.005","article-title":"Analysis of major fecundity genes in autochthonous Laticauda and Bagnolese sheep breeds","volume":"133","author":"Albarella","year":"2015","journal-title":"Small Rumin. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1159\/000489869","article-title":"XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle","volume":"12","author":"Arrighi","year":"2018","journal-title":"Sex Dev."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1159\/000500219","article-title":"Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism","volume":"13","author":"Ciotola","year":"2019","journal-title":"Sex Dev."},{"key":"ref_26","first-page":"42","article-title":"Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)","volume":"10","author":"Szczerbal","year":"2014","journal-title":"Anim. Reprod. Sci."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000322811","article-title":"Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes","volume":"5","author":"Lear","year":"2011","journal-title":"Sex Dev."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Krzemi\u0144ska, P., Nizanski, W., Nowacka-Woszuk, J., and Switonski, M. (2019). Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim. Genet., in press.","DOI":"10.1111\/age.12850"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1177\/104063870902100301","article-title":"Blood chimerism confounds genetic relative susceptibility testing for classical scrapie in sheep","volume":"21","author":"Schneider","year":"2009","journal-title":"J. Vet. Diagn. Investig."}],"container-title":["Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-2615\/9\/10\/776\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:28:51Z","timestamp":1760189331000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-2615\/9\/10\/776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,10]]},"references-count":29,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2019,10]]}},"alternative-id":["ani9100776"],"URL":"https:\/\/doi.org\/10.3390\/ani9100776","relation":{},"ISSN":["2076-2615"],"issn-type":[{"value":"2076-2615","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,10]]}}}