{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:35:57Z","timestamp":1771493757336,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4797,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report 6 affected males in a 5\u2010generation family with X\u2010linked Simpson\u2010Golabi\u2010Behmel (SGB) syndrome. All had pre\u2010 and postnatal overgrowth with 2 adult males attaining heights over 195 cm. Other features included \u201ccoarse\u201d face with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove of the lower lip, grooved tongue with tongue tie, prominent mandible, congenital heart defects, arrhythmias, supernumerary nipples, splenomegaly, large dysplastic kidneys, cryptorchidism, hypospadias, skeletal abnormalities and postaxial hexadactyly. All affected individuals were of normal intelligence. One boy died at age 19 months of a neuroblastoma.<\/jats:p><jats:p>The putative origin of the gene in this family was the maternal great grandmother of the propositus. Eight carrier females, who showed varying manifestations of the gene, have been identified.<\/jats:p><jats:p>Anthropometric analysis has identified preliminary characteristic craniofacial dimensions in this syndrome. Molecular studies have shown a maximal lod score of 2.81 with no recombinants observed for the SGB\u2010DXYS68 pairing, mapping the disorder to Xqcen\u2010Xq21.3.<\/jats:p>","DOI":"10.1002\/ajmg.1320430165","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"428-435","source":"Crossref","is-referenced-by-count":87,"title":["Simpson\u2010golabi\u2010behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen\u2010q21"],"prefix":"10.1002","volume":"43","author":[{"given":"Rhiannon M.","family":"Hughes\u2010Benzie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alasdair G. W.","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith E.","family":"Allanson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex E.","family":"Mackenzie","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","unstructured":"BarkerDF(1991) personal communication"},{"key":"e_1_2_1_3_1","first-page":"A2021","article-title":"Further isolation, characterization and physical localization of X\u2010chromosome RFLP markers, comparing VNTR\u2010directed and random isolation strategies","volume":"51","author":"Barker DF","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300129"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350322"},{"key":"e_1_2_1_7_1","first-page":"A50","article-title":"A third family with Golabi\u2010Rosen syndrome","volume":"43","author":"Garganta CL","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_1_9_1","first-page":"A735","article-title":"Three new families with the Simpson\u2010Golabi\u2010Behmel syndrome","volume":"49","author":"K\u00e4\u00e4ri\u00e4inen H","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380215"},{"key":"e_1_2_1_11_1","first-page":"498","article-title":"Efficient computations in multilocus linkage analysis","volume":"42","author":"Lathrop GM","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.2.130"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300130"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170129"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300131"},{"key":"e_1_2_1_16_1","unstructured":"SimpsonJL LandeyS NewM GermanJ(1975)A previously unrecognized X\u2010linked syndrome of dysmorphia. In: Bergsma D (ed) \u201cMalformation Syndromes.\u201d"},{"issue":"2","key":"e_1_2_1_16_2","first-page":"18","journal-title":"BD:OAS"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(79)68011-4"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00466.x"},{"key":"e_1_2_1_19_1","first-page":"45","article-title":"Facial morphology as determined by anthropometry: Keeping it simple","volume":"9","author":"Ward RE","year":"1989","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496807"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430165","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:17:05Z","timestamp":1693502225000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4,15]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1992,4,15]]}},"alternative-id":["10.1002\/ajmg.1320430165"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430165","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4,15]]}}}