{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T06:01:42Z","timestamp":1792648902928,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,10]],"date-time":"2021-05-10T00:00:00Z","timestamp":1620604800000},"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":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the clinical features of 16 additional patients, review features of previously reported individuals, and suggest clinical guidelines. Our findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration. Most patients had prenatal and perinatal issues, particularly from respiratory, growth, and feeding standpoints. Although small birth parameters were common, long\u2010term growth trends varied widely. An association with advanced parental ages was also identified. The spectrum of growth and development was wide, ranging from nonverbal patients to those able to participate in educational programs with age\u2010appropriate peers. The severity of clinical outcomes was unrelated to blood lymphocyte mosaicism levels. Microarray analysis had a higher diagnostic rate compared to standard karyotype analysis and should be utilized if this diagnosis is suspected. Future longitudinal studies will be key to monitor long\u2010term outcomes of individuals with T9M and determine best practices for clinical management.<\/jats:p>","DOI":"10.1002\/ajmg.a.62251","type":"journal-article","created":{"date-parts":[[2021,5,10]],"date-time":"2021-05-10T07:52:16Z","timestamp":1620633136000},"page":"2374-2383","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Trisomy 9 mosaic syndrome: Sixteen additional patients with new and\/or less commonly reported features, literature review, and suggested clinical guidelines"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5957-7918","authenticated-orcid":false,"given":"Mindy","family":"Li","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Rush Medical College and Rush University Medical Center  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Glass","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Du","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Dubbs","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret Horton","family":"Harr","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marni","family":"Falk","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Smolarek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":false,"given":"Sarah E.","family":"Sheppard","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32601"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560303"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33928"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36977"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<330::AID-AJMG1>3.0.CO;2-V"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60071-X"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2011.10.031"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31740"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.184"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.2350\/06-08-0143.1"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.07.006"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.5.377"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994561"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970131016"},{"key":"e_1_2_9_16_1","first-page":"265","article-title":"Dental management of a child with trisomy 9 mosaicism: A case report","volume":"28","author":"Moskovitz M.","year":"2006","journal-title":"Pediatric Dentistry"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-011-0567-x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040511"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1520-6661(199801\/02)7:1<48::AID-MFM11>3.0.CO;2-H"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<42::AID-AJMG7>3.0.CO;2-S"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150704"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/jmf.14.1.65.69"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291495"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199710)17:10<933::AID-PD179>3.0.CO;2-0"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.3.230"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560304"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1516-31802011000600010"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62251","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62251","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62251","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T04:39:10Z","timestamp":1693197550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,10]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62251"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62251","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,10]]},"assertion":[{"value":"2021-02-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}