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She had developmental and growth retardation, facial dysmorphism with upslanting palpebral fissures, wide downturned mouth, short neck, and Marcus Gunn phenomenon. She also had single transverse creases, hypoplasia of the corpus callosum, and cardiac malformations consisting of a bicuspid aortic valve, multiple ventricular septal defects, and kinking of the aorta. The size of the duplication was characterized by molecular cytogenetics and comparative genomic hybridization (CGH) to be 11.5 Mb in size and extended from the BAC probe RP11\u2010256L11 loci (108.2 Mb)\u2009\u00b1\u20091 Mb to the BAC probe RP11\u2010665J20 loci (119.7 Mb)\u2009\u00b1\u20091 Mb. No such pure 12q24 duplication was detected out of the 23 patients reported in the literature with duplications in 12q region. Comparison with these reported 12q trisomies suggests the duplication dup(12)(q24.1\u2009\u2192\u2009q24.2) is associated with a recognizable phenotype consisting of characteristic facial dysmorphism, growth retardation, and cardiac malformation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31057","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T21:50:01Z","timestamp":1137102601000},"page":"212-221","source":"Crossref","is-referenced-by-count":30,"title":["Pure direct duplication (12)(q24.1\u2009\u2192\u2009q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies"],"prefix":"10.1002","volume":"140A","author":[{"given":"Martine","family":"Doco\u2010Fenzy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Mauran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Marie Lebrun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Bock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bednarek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Struski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Albuisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azarnouche","family":"Ardalan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Collot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anouck","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Dastot\u2010Le Moal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Gaillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Goossens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,12]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"251","article-title":"Partial distal 12q trisomy","volume":"23","author":"de Muelenaere A","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.70"},{"key":"e_1_2_7_4_1","first-page":"2638","article-title":"A new technic of analysis of the human karyotype","volume":"272","author":"Dutrillaux B","year":"1971","journal-title":"C R Acad Sci Hebd Seances Acad Sci D"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)78357-6"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294923"},{"key":"e_1_2_7_7_1","first-page":"283","article-title":"Congenital ptosis with peculiar associated movements of the affected lid","volume":"3","author":"Gunn RM","year":"1883","journal-title":"Trans Ophtal Soc UK"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070206"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00844.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.299"},{"key":"e_1_2_7_11_1","first-page":"625","article-title":"Partial 12q trisomy and chylothorax","volume":"22","author":"Houfflin V","year":"1993","journal-title":"J Gynecol Obstet Biol Reprod (Paris)"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01871255"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30098"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3928\/0191-3913-19831101-05","article-title":"Marcus Gunn jaw winking and Duane's retraction syndrome","volume":"20","author":"Isenberg S","year":"1983","journal-title":"J Pediatr Ophtalmol Strabismus"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.6.2156"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199908)25:4<410::AID-GCC17>3.0.CO;2-J"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.53.4.282"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(95)54024-5"},{"key":"e_1_2_7_19_1","first-page":"155","article-title":". 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