{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:09:03Z","timestamp":1791266943082,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3980,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micrognathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be a manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3\u2010q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at \u03b8 =0.0). \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510459","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:40:44Z","timestamp":1118497244000},"page":"591-597","source":"Crossref","is-referenced-by-count":24,"title":["Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X\u2010linked multiple congenital anomalies\/mental retardation syndrome: Clinical description and molecular studies"],"prefix":"10.1002","volume":"51","author":[{"given":"Ben C. J.","family":"Hamel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin C. M.","family":"Mariman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia E. C.","family":"van Beersum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke M. J.","family":"Schoonbrood\u2010Lenssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210313"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310404"},{"key":"e_1_2_1_4_1","first-page":"5","article-title":"IUGR, short stature, microcephaly, congenital heart disease, X\u2010linked recessive","volume":"4","author":"d'Ercole AJ","year":"1976","journal-title":"Synd Ident"},{"key":"e_1_2_1_5_1","unstructured":"DonnelyA KozmanH GedeonA WebbS LynchM RichardsR MulleyJ(1993):A genetic map of microsatellite markers on the X chromosome. 6th International workshop on the fragile X and X\u2010linked mental retardation p10(abstract 13)."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.361"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170130"},{"key":"e_1_2_1_8_1","first-page":"1129","article-title":"The gene responsible for X\u2010linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1","volume":"50","author":"Gorski SM","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","volume-title":"New Chromosomal and Malformation Syndromes","author":"Grix A","year":"1975"},{"issue":"5","key":"e_1_2_1_9_2","first-page":"107","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370604"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90256-R"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90143-3"},{"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","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_15_1","first-page":"6968","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"19","author":"Miller SA","year":"1988","journal-title":"Nucl Acids Res"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/326091a0"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430159"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1439770"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430158"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230102"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133572"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210121"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210120"},{"key":"e_1_2_1_25_1","first-page":"388","article-title":"Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction","volume":"44","author":"Weber JL","year":"1989","journal-title":"Am J 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.1320510459","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T19:05:15Z","timestamp":1694631915000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7,15]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,7,15]]}},"alternative-id":["10.1002\/ajmg.1320510459"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510459","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,7,15]]}}}