{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T12:08:53Z","timestamp":1790424533290,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6247,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Coffin\u2010Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, \u201ccoarse\u201d facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X\u2010linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X\u2010linked RFLP markers in 4 families. Positive two\u2010point lod scores were obtained with DXS28 (z(\u03b8) = 2.00 at \u03b8 = 0.05) and DXS41 (z(\u03b8) = 1.26 at \u03b8 = 0.10).<\/jats:p><jats:p>We performed a 5\u2010point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 \u2010 18cM \u2010 (DXS16, DXS43) \u2010 13cM \u2010 DXS41 \u2010 5cM \u2010DXS28.<\/jats:p><jats:p>This gave a multipoint lod score of 3.41 for a localisation in Xp22.2\u2010p22.1, between DXS43 and DXS41.<\/jats:p>","DOI":"10.1002\/ajmg.1320300154","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:11Z","timestamp":1118546171000},"page":"523-530","source":"Crossref","is-referenced-by-count":35,"title":["Probable localisation of the Coffin\u2010Lowry locus in Xp22.2\u2010P22.1 by multipoint linkage analysis"],"prefix":"10.1002","volume":"30","author":[{"given":"A.","family":"Hanauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gilgenkrantz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Mujica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Nivelon\u2010Chevallier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. E.","family":"Pembrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. D.","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"ArveilerB AlembikY HanauerA JacobsP TranebjaergL MikkelsenM PuissantH Larget\u2010PietL MandelJL(1988): Linkage analysis suggests at least two loci for X\u2010linked non\u2010specific mental retardation.Am J Med Genet[this issue]"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.6.573"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198311000-00018"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.6.531"},{"key":"e_1_2_1_6_1","first-page":"205","article-title":"Mental retardation with osteocartilaginous anomalies","volume":"112","author":"Coffin GS","year":"1966","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_7_1","first-page":"199","volume":"31","author":"Collacott RA","year":"1987","journal-title":"J Ment Def Res"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4059909"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446276"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445790"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01379.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110317"},{"key":"e_1_2_1_13_1","first-page":"482","article-title":"Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination","volume":"37","author":"Lathrop GM","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02100170078009"},{"key":"e_1_2_1_15_1","first-page":"1000","volume-title":"Mendelian inheritance in man","author":"McKusick VA","year":"1983"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278816"},{"key":"e_1_2_1_17_1","first-page":"258","article-title":"Mental retardation, abnormal fingers and skeletal anomalies. Coffin's syndrome","volume":"124","author":"Procopis PG","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/BF00273835","article-title":"Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X\u2010chromosomal DNA markers","volume":"75","author":"Wilichowski E","year":"1987","journal-title":"Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320300154","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300154","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:40:40Z","timestamp":1693395640000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":17,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1002\/ajmg.1320300154"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300154","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}