{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:22:25Z","timestamp":1787239345847,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3671,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,5,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Partial deletion of the short arm of chromosome 9 (p24\u2192pter) and partial duplication of the long arm of chromosome 5 (q32\u2192qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosis, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other infants with similar cytogenetic abnormalities were described previously. These patients had severe congenital heart defect, genitourinary anomalies, broad nasal bridge, low hairline, apparently low\u2010set ears, short neck, and triphalangeal thumbs, in common with our patient. We suggest that combined monosomy 9p23,24\u2192pter and trisomy 5q31,32\u2192qter may constitute a clinically recognizable syndrome. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570112","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T09:31:34Z","timestamp":1118482294000},"page":"52-56","source":"Crossref","is-referenced-by-count":8,"title":["Monosomy 9p24\u2192pter and trisomy 5q31\u2192qter: Case report and review of two cases"],"prefix":"10.1002","volume":"57","author":[{"given":"Lisa A.","family":"Schimmenti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney R.","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy J.","family":"Mendelsohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy M.","family":"Casey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Steinberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark C.","family":"Mammel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia L.","family":"Wiesner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(85)90012-8"},{"key":"e_1_2_1_3_1","first-page":"231","article-title":"Partial trisomy 17q and monosomy 9p due to a familial translocation","volume":"33","author":"Cotter PD","year":"1990","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01779.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.8.525"},{"key":"e_1_2_1_6_1","first-page":"186","article-title":"Distinct dysmorphic syndrome in a child with inverted distal 5q duplication","volume":"30","author":"Fryns JP","year":"1987","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.741"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_9_1","first-page":"46","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1982"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278289"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.180"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.8.586"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291766"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310419"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T21:10:17Z","timestamp":1698268217000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5,22]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,5,22]]}},"alternative-id":["10.1002\/ajmg.1320570112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570112","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5,22]]}}}