{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:41:29Z","timestamp":1790692889711,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,6,29]],"date-time":"2004-06-29T00:00:00Z","timestamp":1088467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The existence of X\u2010linked disorders in humans has been recognized for many centuries, based on lessons in religious texts and observations of specific human families (e.g., color blindness or Daltonism). Our modern concepts of Mendelian (including X\u2010linked) inheritance originated just after the turn of the last century. Early concepts of dominance and recessiveness were first used in conjunction with autosomal traits, and then applied to \u201csex\u201d\u2010linked traits to distinguish X\u2010linked recessive and X\u2010linked dominant inheritance. The former was defined as vertical transmission in which carrier women pass the disorder to affected sons, while the latter was defined as vertical transmission in which daughters of affected males are always affected, transmitting the disorder to offspring of both sexes. However, many X\u2010linked disorders such as adrenoleukodystrophy, fragile X syndrome, and ornithine transcarbamylase deficiency do not fit these rules. We reviewed the literature on 32 X\u2010linked disorders and recorded information on penetrance and expressivity in both sexes. As expected, penetrance and an index of severity of the phenotype (defined in our Methods) were both high in males, while the severity index was low in females. Contrary to standard presentations of X\u2010linked inheritance, penetrance was highly variable in females. Our analysis classified penetrance as high in 28% of the disorders studied, intermediate in 31%, and low in 40%. The high proportion of X\u2010linked disorders with intermediate penetrance is difficult to reconcile with standard definitions of X\u2010linked recessive and dominant inheritance. They do not capture the extraordinarily variable expressivity of X\u2010linked disorders or take into account the multiple mechanisms that can result in disease expression in females, which include cell autonomous expression, skewed X\u2010inactivation, clonal expansion, and somatic mosaicism. We recommend that use of the terms X\u2010linked recessive and dominant be discontinued, and that all such disorders be simply described as following \u201cX\u2010linked\u201d inheritance. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30123","type":"journal-article","created":{"date-parts":[[2004,6,29]],"date-time":"2004-06-29T18:00:49Z","timestamp":1088532049000},"page":"136-143","source":"Crossref","is-referenced-by-count":145,"title":["Inheritance of most X\u2010linked traits is not dominant or recessive, just X\u2010linked"],"prefix":"10.1002","volume":"129A","author":[{"given":"William B.","family":"Dobyns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Filauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett N.","family":"Tomson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April S.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen W.","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas T.","family":"Ting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan C.","family":"Oosterwijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Ober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,29]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Babylonian Talmud. 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