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In contrast, the phenotypic features of mosaic trisomy 9 have been well described in the literature as these individuals can survive to birth and beyond. Therefore, a better understanding of the phenotypic spectrum of NMTS9 is needed to provide appropriate perinatal counseling. The phenotype from three fetal and one neonatal case of NMTS9, as defined by chromosome analysis in multiple tissues, is consistent with the existing literature and includes narrow forehead, midface hypoplasia, microphthalmia, clouded corneas, blepharophimosis, rounded nasal tip, broad\/prominent nasal bridge, low\u2010set ears with and without malformations, short and broad neck, cerebellar abnormalities, a wide range of cardiac anomalies including ventricular and atrial septal defects as well as valve dysplasia, congenital diaphragmatic hernia, hydronephrosis, and hypoplastic genitalia, multiple contractures, multiple dislocations, and talipes equinovarus. We also report an expansion of the cardiac, genitourinary, and renal phenotypes. This combined phenotype based on prenatal imaging and fetal\/postnatal autopsy further delineates the clinical phenotype of NMTS9.<\/jats:p>","DOI":"10.1002\/ajmg.a.64087","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T10:03:06Z","timestamp":1744192986000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Non\u2010Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5937-9148","authenticated-orcid":false,"given":"Courtney P.","family":"Verscaj","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Gordon","sequence":"additional","affiliation":[{"name":"SCL Health Medical Group  Billings Montana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley D.","family":"Holbrook","sequence":"additional","affiliation":[{"name":"Community Medical Center  Missoula Montana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia Maher","family":"Trocki","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabitha","family":"Poorvu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-9880","authenticated-orcid":false,"given":"Christina","family":"Miller","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Schwalbe","sequence":"additional","affiliation":[{"name":"Shodair Children's Hospital  Helena Montana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maija","family":"Trout","sequence":"additional","affiliation":[{"name":"Shodair Children's Hospital  Helena Montana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Zearfoss","sequence":"additional","affiliation":[{"name":"Shodair Children's Hospital  Helena Montana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Welker","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8162-5031","authenticated-orcid":false,"given":"Monica H.","family":"Wojcik","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdallah F.","family":"Elias","sequence":"additional","affiliation":[{"name":"Shodair Children's Hospital  Helena Montana USA"},{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120306"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19960424)62:4<330::AID\u2010AJMG1>3.0.CO;2\u2010V"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4332"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2011.10.031"},{"issue":"1","key":"e_1_2_9_6_1","first-page":"63","article-title":"Complete Trisomy 9. 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