{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T14:57:05Z","timestamp":1790089025683,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5634,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome is a neurodegenerative disorder that occurs exclusively in females. The syndrome is sporadic in most cases with the exception of a few familial cases with an inheritance pattern through maternal lines. These observations raised the possibility that Rett syndrome may be due to an X\u2010linked dominant mutation which is lethal in the male. To evaluate this hypothesis, we have systematically performed high\u2010resolution chromosome analysis on 28 patients with Rett syndrome searching for deletions and\/or translocations. In one patient, a <jats:italic>de novo<\/jats:italic> balanced translocation was observed with the chromosome constitution of 46, X, t (X;3) (p22.11;q13.31). This finding supports the hypothesis of an X\u2010linked dominant mutation and suggests that the Rett gene might map to distal Xp21 or proximal Xp22.<\/jats:p>","DOI":"10.1002\/ajmg.1320350131","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:34:51Z","timestamp":1118547291000},"page":"148-151","source":"Crossref","is-referenced-by-count":47,"title":["A <i>de novo<\/i> X; 3 translocation in Rett syndrome"],"prefix":"10.1002","volume":"35","author":[{"given":"H. Y.","family":"Zoghbi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. K.","family":"Percy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. G.","family":"Glaze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00221.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80028-0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","unstructured":"HanefeldF HanefeldU WilichowskiE SchmidtkeJ(1986): Rett syndrome\u2010search for genetic markers.Am J Med Genet (Suppl 1):377\u2013382.","DOI":"10.1002\/ajmg.1320250539"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02607.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80047-4"},{"key":"e_1_2_1_8_1","first-page":"6","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"ISCN","year":"1985"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","unstructured":"ErrAM StephensonJBP(1986): A study of the natural history of Rett syndrome in 23 girls.Am J Med Genet (Suppl 1):77\u201383.","DOI":"10.1002\/ajmg.1320250509"},{"key":"e_1_2_1_10_1","first-page":"343","volume-title":"The Metabolic Basis of Inherited Disease","author":"Ledbetter DH","year":"1989"},{"key":"e_1_2_1_11_1","volume-title":"\u00dcber ein zerebralatrophisches Syndrome bei Hyperammonamie","author":"Rett A","year":"1966"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"RomeoG ArchidiaconoN FerliniA RocchiM(1986): Rett syndrome: Lack of association with fragile Xp22 and strategy for genetic mapping of X\u2010linked new mutation.Am J Med Genet (Suppl 1):355\u2013359.","DOI":"10.1002\/ajmg.1320250536"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90350-9"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112795"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230432"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280492"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289472"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6729462"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388800300115"},{"key":"e_1_2_1_21_1","unstructured":"ZoghbiHY PercyAK SchultzRJ FillC(1989): Patterns of X chromosome inactivation in Rett syndrome.Brain Dev in press."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320350131","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320350131","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:30:00Z","timestamp":1698021000000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320350131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,1]]}},"alternative-id":["10.1002\/ajmg.1320350131"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320350131","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,1]]}}}