{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:05:50Z","timestamp":1782248750371,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:00:00Z","timestamp":1693180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who conceived spontaneously and carried a healthy pregnancy to term. The patient presented with extreme short stature (more than 4SD below expected) and a bilateral Madelung deformity suggesting a possible <jats:italic>SHOX<\/jats:italic> deletion. The patient was otherwise medically well. This patient's short stature was found to be a result of a complex chromosome rearrangement involving a partial X chromosome deletion, which included the <jats:italic>SHOX<\/jats:italic> gene and a gain of Y chromosomal material. The Y chromosome material did not contain the <jats:italic>SRY<\/jats:italic> gene locus. This is the first recorded case to date of this rearrangement in a female who spontaneously conceived which resulted in a live birth. This patient had normal external and internal anatomy and normal endocrine evaluation with normal puberty. X\u2010inactivation studies revealed no evidence of skewed inactivation.<\/jats:p>","DOI":"10.1002\/ajmg.a.63374","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T12:33:47Z","timestamp":1693226027000},"page":"2884-2889","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel report of a fertile female with partial <scp>Y<\/scp> chromosome gain completing a healthy pregnancy"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6246-3201","authenticated-orcid":false,"given":"John","family":"Coleman","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Children's Health Ireland at Crumlin  Crumlin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Kavanagh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Health Ireland at Crumlin  Crumlin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Kesterton","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics, Viapath Guy's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann\u2010Marie","family":"Hegarty","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics Children's Health Ireland at Crumlin  Crumlin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"O'Connell","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Children's Health Ireland at Crumlin  Crumlin Ireland"},{"name":"Department of Paediatrics Royal College of Surgeons Ireland  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Health Ireland at Crumlin  Crumlin Ireland"},{"name":"School of Medicine University College Dublin  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<391::AID-AJMG17>3.0.CO;2-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2248"},{"key":"e_1_2_8_4_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Binduer G.","year":"2005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32265"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS20180436"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000496996"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/7771"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000366170"},{"key":"e_1_2_8_10_1","first-page":"237","article-title":"Expression of DAZ, an azoospermia factor candidate, in human spermatogonia","volume":"60","author":"Menke D. 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