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An autopsy demonstrated absent right middle lobe of the lung, bilateral renal cysts, hypoplastic renal arteries, urethral stricture, hydronephrosis, and aortic coarctation. The brain was abnormal with absent olfactory tracts and cerebral and cerebellar heterotopias.<\/jats:p><jats:p>This is the first report of a chromosome anomaly in a child with Fryns phenotype. It suggests that the gene for Fryns syndrome may be located in the region 1q24\u201031.2.<\/jats:p>","DOI":"10.1002\/ajmg.1320340319","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:32:04Z","timestamp":1118547124000},"page":"422-426","source":"Crossref","is-referenced-by-count":42,"title":["Apparent Fryns syndrome in a boy with a tandem duplication of 1q24\u201031.2"],"prefix":"10.1002","volume":"34","author":[{"given":"Robin Dawn","family":"Clark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Fenner\u2010Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289442"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.399"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295591"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01512.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00055.x"},{"key":"e_1_2_1_7_1","first-page":"57","article-title":"Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities: A new lethal syndrome","volume":"28","author":"Goddeeris P","year":"1980","journal-title":"J Genet Hum"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030406"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140309"},{"key":"e_1_2_1_10_1","first-page":"941","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00419.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310413"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01935.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00281010","article-title":"Trisomy of the long arm of human chromsome 1","volume":"25","author":"Norwood TH","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_15_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and probable location of the Duffy (FY) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00945.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(87)90210-9"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00277638","article-title":"Possible trisomy 1q 25\u20101q 32 in a malformed girl with a de novo insertion in 1q","volume":"49","author":"Schinzel A","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1987.tb10441.x"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.1.82"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320340319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320340319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T18:20:39Z","timestamp":1697998839000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320340319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,11]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,11]]}},"alternative-id":["10.1002\/ajmg.1320340319"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320340319","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,11]]}}}