{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:10:39Z","timestamp":1787242239462,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,6,7]],"date-time":"2002-06-07T00:00:00Z","timestamp":1023408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The main features of trisomy 9 syndrome in mosaic and non\u2010mosaic forms have been thoroughly described. Characteristic traits are low\u2010set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 with holoprosencephaly (HPE). The propositi was born at 37 weeks, with intra\u2010uterine growth retardation, hypotelorism and single nostril, ventricular septal defect, anterior placement of anus, clenched hands with thumb adduction and ulnar deviation. Facial anomalies characteristic of trisomy 9 included deeply set eyes and short palpebral fissures, flat face with maxillary hypoplasia, small mouth, and low\u2010set posteriorly angulated ears. Cytogenetic analysis showed mosaic trisomy 9 with 17% trisomic cells. Pathology confirmed lobar HPE. In literature, isolated arrhinia, related to the HPE spectrum, was reported in one case of mosaic trisomy 9. Our case raises the question of the causative role of trisomy 9 in full blown HPE. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10481","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T07:56:23Z","timestamp":1033890983000},"page":"295-300","source":"Crossref","is-referenced-by-count":11,"title":["Mosaic trisomy 9 and lobar holoprosencephaly"],"prefix":"10.1002","volume":"111","author":[{"given":"Marion","family":"G\u00e9rard\u2010Blanluet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Danan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Sinico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Lelong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Borghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Dassieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Claude","family":"Janaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9recht\u00e9","family":"Encha\u2010Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,6,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444348"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb07185.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560303"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490204"},{"key":"e_1_2_6_6_1","first-page":"251","article-title":"Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases","volume":"18","author":"Blackburn WR","year":"1982","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.791"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130202"},{"key":"e_1_2_6_9_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_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81374-4"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560302"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.612"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.184"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876579"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220204"},{"key":"e_1_2_6_17_1","first-page":"665","article-title":"Clinical delineation of trisomy 9 syndrome","volume":"56","author":"Katayana KP","year":"1980","journal-title":"Obstet Gynecol"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/384176a0"},{"key":"e_1_2_6_19_1","first-page":"A27","article-title":"Mutations in Patched in holoprosencephaly","volume":"63","author":"Ming JE","year":"1998","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340222"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<315::AID-AJMG10>3.0.CO;2-Y"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150704"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<481::AID-PD274>3.0.CO;2-Z"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.5.433"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/384129a0"},{"key":"e_1_2_6_29_1","first-page":"14","article-title":"Trisomy 9 mosaicism syndrome. 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