{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:19:18Z","timestamp":1760782758501},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6790,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two male patients with a 46,XY, \u2212 18, +der(18),t(7;18)(q31.2; q23)mat karyotype. Previously, 22 other patients with dup(7q) have been described, but only four of them had duplication of segment 7q31\u2192 7qter. The two patients in this study were ascertained independently and lived in different states. However, because of the rarity of this translocation, the patients were suspected to be related. The families were investigated extensively, and the patients were found to be third cousins once removed. Both patients had severe hypospadias, large fontanelles, cleft palate, and minor facial anomalies (square and prominent forehead, short, downslanting palpebral fissures, long eyelashes, long philtrum, short nose, thin vermilion border with downcurved upper lip). Their phenotypes were compared with those of previously described patients. One of the two patients described here is alive at 23 months and is the oldest known living patient with this chromosome abnormality. Apneic spells often are present and may be secondary to severe brain abnormalities, such as those identified in our two patients.<\/jats:p>","DOI":"10.1002\/ajmg.1320250310","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:08:47Z","timestamp":1118520527000},"page":"477-488","source":"Crossref","is-referenced-by-count":15,"title":["Duplication of 7q31.2\u21927qter and deficiency of 18qter: Report of two patients and literature review"],"prefix":"10.1002","volume":"25","author":[{"given":"Debra D.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia V.","family":"Michels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha A.","family":"Aas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gordon W.","family":"Dewald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.187"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01572.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02041.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80545-1"},{"key":"e_1_2_1_6_1","first-page":"1801","article-title":"Les trisomies partielles du bras long du chromosome 7","volume":"3","author":"Berger R","year":"1974","journal-title":"Nouv Presse Med"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01275.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/BF00273186","article-title":"Identification of a D\/E(15\/18) translocation chromosome by quinacrine fluorescence and urea banding techniques","volume":"17","author":"Borgaonkar DS","year":"1973","journal-title":"Humangenetik"},{"key":"e_1_2_1_9_1","first-page":"283","article-title":"Trisomie partielle 7q par translocation familiale t(7;12)(q22;q24)","volume":"15","author":"Carpentier S","year":"1972","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(67)90418-7"},{"key":"e_1_2_1_11_1","first-page":"1","article-title":"Modern methods of chromosome analysis and their application in clinical practice","volume":"2","author":"Dewald G","year":"1983","journal-title":"Clin Lab Annu"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1979.tb01646.x"},{"key":"e_1_2_1_13_1","first-page":"51","article-title":"Partial trisomy of 7q resulting from a familial translocation","volume":"16","author":"Grace E","year":"1973","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_14_1","first-page":"579","article-title":"D\u00e9l\u00e9tion partielle des bras longs du chromosome 18","volume":"12","author":"de Grouchy J","year":"1964","journal-title":"Pathol Biol (Paris)"},{"key":"e_1_2_1_15_1","first-page":"314","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282296"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.222.140"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131621"},{"key":"e_1_2_1_19_1","first-page":"100","article-title":"Partial trisomy 7q in two siblings","volume":"26","author":"Klasen M","year":"1983","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_20_1","first-page":"32","article-title":"La d\u00e9l\u00e9tion partielle du bras long du chromosome 18. 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