{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:59:03Z","timestamp":1792205943456,"version":"4.4.0"},"reference-count":47,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012280","name":"Rare Disease Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    45,X\/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated risk of gonadal tumors included small cohorts and limited follow\u2010up. To better describe the clinical manifestations and long\u2010term outcome of patients with 45,X\/46,XY mosaicism. We conducted a retrospective chart review of patients with 45,X\/46,XY from three health centers (Hospital for Sick Children and Mount Sinai Hospital in Canada, and University of Pittsburgh Medical Center in United States). Of 100 patients with 45,X\/46,XY karyotype, 47 were raised as females and 53 as males. Females were significantly shorter than males (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.04) and height\n                    <jats:italic>Z<\/jats:italic>\n                    \u2010score was significantly decreased with age for both genders (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.02). Growth hormone (GH) treatment did not result in a significant height increase compared to the untreated group (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.5). All females required puberty induction in contrast to majority of males. Five females were diagnosed with gonadal tumors, while no males were affected. Around 58% of patients exhibited at least one Turner syndrome stigmata. This study expands the clinical spectrum, long\u2010term outcomes, and associated tumor risk in a large cohort of patients with 45,X\/46,XY mosaicism. Additionally, it highlights our experience with GH therapy and prophylactic gonadectomy.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63451","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:12:21Z","timestamp":1698300741000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["45,X\/46,\n                    <scp>XY<\/scp>\n                    mosaicism: Clinical manifestations and long term\n                    <scp>follow\u2010up<\/scp>"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9026-7002","authenticated-orcid":false,"given":"Ebba","family":"Alkhunaizi","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna Plamondon","family":"Albrecht","sequence":"additional","affiliation":[{"name":"Cancer Risk and Prevention Clinic, Outpatient Care, Maine Health  Portland Maine USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Aarabi","sequence":"additional","affiliation":[{"name":"UPMC Medical Genetics &amp; Genomics Laboratories, UPMC Magee\u2010Womens Hospital  Pittsburgh Pennsylvania USA"},{"name":"Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma F.","family":"Witchel","sequence":"additional","affiliation":[{"name":"Division of Endocrinology UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Wherrett","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riyana","family":"Babul\u2010Hirji","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Department of Biostatistics University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyne","family":"Chiniara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology CHU Sainte\u2010Justine and University of Montreal  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Chater\u2010Diehl","sequence":"additional","affiliation":[{"name":"Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Shago","sequence":"additional","affiliation":[{"name":"Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Shuman","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Rajkovic","sequence":"additional","affiliation":[{"name":"Department of Pathology, and Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Francisco  San Francisco California USA"},{"name":"Institute of Human Genetics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"UPMC Medical Genetics &amp; Genomics Laboratories, UPMC Magee\u2010Womens Hospital  Pittsburgh Pennsylvania USA"},{"name":"Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"},{"name":"Magee\u2010Womens Research Institute  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-27302010000300013"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02000.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000441342"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000315"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0104-42302010000600012"},{"key":"e_1_2_9_8_1","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases","volume":"46","author":"Chang H. 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