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Genet."],"published-print":{"date-parts":[[1994,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 3\u2010month\u2010old infant girl had manifestations of the Smith\u2010Lemli\u2010Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels. Chromosomal analysis showed a de novo balanced translocation interpreted as 46,XX,t(7;20)(q32.1;q13.2). We hypothesize that the translocation breakpoint in this case interrupts one SLOS allele and that the other allele at the same locus has a more subtle mutation that was inherited from the other parent. This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500414","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:07:10Z","timestamp":1118509630000},"page":"368-374","source":"Crossref","is-referenced-by-count":24,"title":["Smith\u2010Lemli\u2010Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene"],"prefix":"10.1002","volume":"50","author":[{"given":"Margaret","family":"Wallace","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto T.","family":"Zori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Alley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Whidden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian A.","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles A.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/20.4.470"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340312"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360112"},{"key":"e_1_2_1_5_1","first-page":"51","article-title":"Three sisters with the Smith\u2010Lemli\u2010Opitz syndrome","volume":"18","author":"Bundey S","year":"1974","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-128X(85)90032-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.6.2.113"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.7.436"},{"key":"e_1_2_1_10_1","first-page":"890","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00932.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02020219"},{"key":"e_1_2_1_13_1","first-page":"76","article-title":"A family with three sisters with the 4p\u2010 syndrome, originally reported as suffering from the Smith\u2010Lemli\u2010Opitz syndrome","volume":"35","author":"Hill S","year":"1991","journal-title":"J Mental Defic Res"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90983-N"},{"key":"e_1_2_1_15_1","first-page":"109","article-title":": A new disorder of cholesterol biosynthesis in three patients with the Smith\u2010Lemli\u2010Opitz syndrome","volume":"3","author":"Irons M","year":"1993","journal-title":"Hum Genet 53"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443506"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140304"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.144"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1981.03930020876013"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80441-X"},{"key":"e_1_2_1_21_1","first-page":"431","article-title":"Smith\u2010Lemli\u2010Opitz syndrome in an inbred family","volume":"124","author":"Nevo S","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260113"},{"key":"e_1_2_1_23_1","first-page":"43","volume-title":"The First Conference on The Clinical Delineation of Birth Defects. 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