{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T17:29:41Z","timestamp":1776274181509,"version":"3.50.1"},"reference-count":27,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from chromosome 9p. Amniocentesis was performed and sent for chromosomal microarray, which was normal. Maternal karyotype revealed that mos 47,XX,+dic(9;9)(q21.1;q21.1)(24)\/46,XX(9) presents mosaic tetrasomy for the short arm of chromosome 9p and is related to the NIPT results showing elevation in DNA from chromosome 9p. The pregnancy was uneventful, and the patient was delivered at term. Maternal samples were obtained at two different time points after delivery showed the same multiple chromosomal aberrations detected during pregnancy. This is a first report on an unusual case of mosaic isodicentric tetrasomy 9p in a healthy adult with normal intellect. With widespread adoption of NIPT for screening fetal aneuploidy and genome-wide copy number changes, a rise in incidental detection of maternal rare genetic syndrome will bring challenges in our current approach to genetic counselling and prenatal diagnosis.<\/jats:p>","DOI":"10.3390\/genes12030370","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T05:03:15Z","timestamp":1614920595000},"page":"370","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5626-6308","authenticated-orcid":false,"given":"Wendy","family":"Shu","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9923-7424","authenticated-orcid":false,"given":"Shirley S. W.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Clinical Genetic Service, Hong Hong Children Hospital, Ngau Tau Kok, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuwen","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin Wai","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Inda","family":"Soong","sequence":"additional","affiliation":[{"name":"Department of Clinical Oncology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7379-003X","authenticated-orcid":false,"given":"Anita Sik Yau","family":"Kan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunny Wai Hung","family":"Cheung","sequence":"additional","affiliation":[{"name":"NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/BF00385740","article-title":"Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author\u2019s transl)","volume":"20","author":"Ghymers","year":"1973","journal-title":"Humangenetik"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1111\/j.1399-0004.1997.tb02510.x","article-title":"Moving towards a syndrome: A review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival","volume":"52","author":"Tonk","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_3","first-page":"571","article-title":"Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: Cytogenetic and molecular-cytogenetic studies","volume":"158","author":"Stumm","year":"1999","journal-title":"Eur. J. Nucl. Med. Mol. Imaging"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/ajmg.b.10826","article-title":"Three cases of tetrasomy 9p","volume":"113","author":"Dhandha","year":"2002","journal-title":"Am. J. Med Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/ajmg.1320470603","article-title":"Tetrasomy 9p: Tissue-limited idic (9p) in a child with mild manifestations and a normal CVS result. Report and review","volume":"47","author":"Grass","year":"1993","journal-title":"Am. J. Med Genet."},{"key":"ref_6","first-page":"285","article-title":"Tetrasomy 9p with no Apparent Phenotypic Characteristics","volume":"73","author":"Sait","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1159\/000083909","article-title":"Tetrasomy 9p Mosaicism Associated with a Normal Phenotype","volume":"20","author":"McAuliffe","year":"2005","journal-title":"Fetal Diagn. Ther."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1159\/000337520","article-title":"Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases","volume":"136","author":"Papoulidis","year":"2012","journal-title":"Cytogenet. Genome Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1002\/pd.5721","article-title":"The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome","volume":"40","author":"Chau","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1002\/ajmg.a.36932","article-title":"Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review","volume":"167","author":"Jaillard","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<530::AID-AJMG14>3.0.CO;2-L","article-title":"New case of mosaic tetrasomy 9p with additional neurometabolic findings","volume":"75","author":"Eggermann","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_12","first-page":"143","article-title":"Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production","volume":"53","author":"Ogino","year":"2007","journal-title":"Kobe J. Med. Sci."},{"key":"ref_13","first-page":"370195","article-title":"Cytogenetics of premature ovarian failure: An investigation on 269 affected women","volume":"2011","author":"Baronchelli","year":"2011","journal-title":"J. Biomed. Biotechnol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1007\/s10815-020-01690-0","article-title":"A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: A case report","volume":"37","author":"Bellil","year":"2020","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.3389\/fgene.2019.01131","article-title":"Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes with Known Adverse Outcome. A Systematic Review","volume":"10","author":"Liehr","year":"2019","journal-title":"Front. Genet."},{"key":"ref_16","unstructured":"Kim, M., Park, C., Park, S., Kim, M., Lee, B., and Lee, M. (2009, January 20\u201324). Prenatal Diagnosis of a De Novo Mosaic Isochromosome 18p: Karyotype Discordance between Amniocytes and Fetal\/Neonatal Blood. Proceedings of the ASHG Annual Meeting, Honolulu, HI, USA."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ajmg.a.10877","article-title":"Mild phenotype in a 15-year-old boy with Pallister\u2013Killian syndrome","volume":"116","author":"Genevieve","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.jsgi.2005.06.001","article-title":"Anti-Mullerian hormone in premenopausal women and after spontaneous or surgically induced menopause","volume":"12","author":"Giulini","year":"2005","journal-title":"J. Soc. Gynecol. Investig."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.clindermatol.2010.09.012","article-title":"Blaschko lines and other patterns of cutaneous mosaicism","volume":"29","author":"Schaffer","year":"2011","journal-title":"Clin. Dermatol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/ajmg.a.20447","article-title":"Two cases of tetrasomy 9p syndrome with tissue limited mosaicism","volume":"124A","author":"Lloveras","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e010002","DOI":"10.1136\/bmjopen-2015-010002","article-title":"Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: A systematic review and meta-analysis","volume":"6","author":"Freeman","year":"2016","journal-title":"BMJ Open"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2478\/bjmg-2019-0012","article-title":"A systematic clinical review of prenatally diagnosed tetrasomy 9p","volume":"22","author":"Volk","year":"2019","journal-title":"Balk. J. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.tjog.2019.11.003","article-title":"Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review","volume":"59","author":"Samura","year":"2020","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1086\/302205","article-title":"Rapid Clearance of Fetal DNA from Maternal Plasma","volume":"64","author":"Lo","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1634\/theoncologist.2002-0279","article-title":"Coexistence of pregnancy and malignancy","volume":"7","author":"Pavlidis","year":"2002","journal-title":"Oncologist"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ijc.25007","article-title":"Plasma microRNAs are promising novel biomarkers for early detection of colorectal cancer","volume":"127","author":"Huang","year":"2009","journal-title":"Int. J. Cancer"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1097\/AOG.0000000000002474","article-title":"Maternal Malignancy Evaluation after Discordant Cell-Free DNA Results","volume":"131","author":"Carlson","year":"2018","journal-title":"Obstet. Gynecol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/3\/370\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:33:15Z","timestamp":1760160795000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/3\/370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,5]]},"references-count":27,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,3]]}},"alternative-id":["genes12030370"],"URL":"https:\/\/doi.org\/10.3390\/genes12030370","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,5]]}}}