{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:08:12Z","timestamp":1783487292026,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4801,"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 restudied a family with X\u2010linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan\u2010Herndon\u2010Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z=4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.<\/jats:p>","DOI":"10.1002\/ajmg.1320430173","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"491-497","source":"Crossref","is-referenced-by-count":43,"title":["Allan\u2010herndon\u2010dudley syndrome: Clinical and linkage studies on a second family"],"prefix":"10.1002","volume":"43","author":[{"given":"Martin G.","family":"Bialer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lawrence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gittel","family":"Silverberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjorie K.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Fernando","family":"Arena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert A.","family":"Lubs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","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","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_3_1","first-page":"13","article-title":"Sex\u2010linked spastic paraplegia","volume":"71","author":"Baar HS","year":"1966","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_4_1","first-page":"1214","article-title":"Allan\u2010Herndon syndrome\u2010or X\u2010linked cerebral palsy?","volume":"48","author":"Bundey S","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07968.x"},{"key":"e_1_2_1_6_1","first-page":"75A","article-title":"A new X\u2010linked recessive mental retardation syndrome with progressive spastic quadriparesis","volume":"33","author":"Davis JG","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132977"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_9_1","first-page":"1372","volume-title":"Birth Defects Encyclopedia","author":"Johnson VP","year":"1990"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132805"},{"key":"e_1_2_1_11_1","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop GM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"482","article-title":"Multilocus linkage analysis in humans: detections of linkage and estimation of recombination","volume":"37","author":"Lathrop GM","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132307"},{"key":"e_1_2_1_14_1","first-page":"454","article-title":"Allan\u2010Herndon syndrome. 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