{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:22:26Z","timestamp":1790652146675,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7764,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a male infant with the Aarskog syndrome and his equally prominently affected mother. The propositus and his mother have a balanced X\u2010autosome translocation which originated in her. We postulate that the mother's translocation resulted in a presumed de novo point mutation for the Aarskog locus and that she has nonrandom inactivation of her structurally normal X. The full expression of the syndrome in the mother is compared to the partial expression in reported females. It is concluded that the Aarskog syndrome is an X\u2010linked disorder and that the locus for the syndrome is at Xq13.<\/jats:p>","DOI":"10.1002\/ajmg.1320170307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:38:39Z","timestamp":1118518719000},"page":"595-602","source":"Crossref","is-referenced-by-count":44,"title":["Aarskog syndrome: Full male and female expression associated with an X\u2010autosome translocation"],"prefix":"10.1002","volume":"17","author":[{"given":"E.","family":"Bawle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tyrkus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lipman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bozimowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_1_3_1","volume-title":"The Clinical Delineation of Birth Defects, Part X, The Endocrine System","author":"Aarskog D","year":"1971"},{"issue":"6","key":"e_1_2_1_3_2","first-page":"235","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","volume-title":"Malformation Syndromes","author":"Berman P","year":"1974"},{"issue":"7","key":"e_1_2_1_4_2","first-page":"151","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.9.706"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80242-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329173"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150105"},{"key":"e_1_2_1_9_1","first-page":"513","article-title":"Duchenne muscular dystrophy (DMD) in a female with an X\/autosome translocation: Further evidence that the DMD locus is at Xp21","volume":"53","author":"Jacobs PA","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.5.389"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/300069a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1980.tb07135.x"},{"key":"e_1_2_1_13_1","volume-title":"The Clinical Delineation of Birth Defects, Part X, The Endocrine System","author":"Scott CI","year":"1971"},{"issue":"6","key":"e_1_2_1_13_2","first-page":"240","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_14_1","first-page":"248","article-title":"The facial\u2010digital\u2010genital (Aarskog) syndrome","volume":"126","author":"Sugarman GI","year":"1973","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_15_1","volume-title":"Annual Review of Birth Defects 1977, Proceedings of the 1977 Memphis Birth Defects Conference. 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