{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:45Z","timestamp":1760906865753},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4324,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470117","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"85-88","source":"Crossref","is-referenced-by-count":20,"title":["Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries"],"prefix":"10.1002","volume":"47","author":[{"given":"Anthonie J.","family":"van Essen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coen J. F.","family":"Schoots","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"van Lingen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marian J. 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A propos des deux observations 46,XY,ter rea (18;18) (pter;pter)","volume":"21","author":"Laurent C","year":"1978","journal-title":"Ann G\u00e9n\u00e9t (Paris)"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1399-0004.1992.tb03670.x","article-title":"Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe","volume":"41","author":"Menguid Na","year":"1992","journal-title":"Clin Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.4.462"},{"issue":"18","key":"e_1_2_1_19_1","first-page":"46","volume":"18","author":"Rodiere M","year":"1977","journal-title":"Isochromosomie"},{"key":"e_1_2_1_19_2","first-page":"611","volume":"24","journal-title":"Ann P\u00e9diatr (Paris)"},{"key":"e_1_2_1_20_1","first-page":"513","article-title":"Trisomy 18 with karyotype 47,XX,\u201018,+i psu dic(18p)","volume":"29","author":"Romain DR","year":"1992","journal-title":"J Med Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313027509092711"},{"key":"e_1_2_1_22_1","first-page":"673","article-title":"Trisomie 18. 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