{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:41:38Z","timestamp":1792028498175,"version":"4.4.0"},"reference-count":32,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7093,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two women with the fragile X syndrome (Martin\u2010Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome.<\/jats:p><jats:p>Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.<\/jats:p>","DOI":"10.1002\/ajmg.1320230129","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:02:23Z","timestamp":1118520143000},"page":"375-380","source":"Crossref","is-referenced-by-count":40,"title":["Autism in fragile X females"],"prefix":"10.1002","volume":"23","author":[{"given":"Randi J.","family":"Hagerman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert E.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan H.","family":"Knoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Alfred W.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melinda","family":"Kemper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razia","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","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","unstructured":"American Psychiatric Association (APA)(1980): \u201cDiagnostic and Statistical Manual of Mental Disorders.\u201d Third edition. Washington D.C. pp87\u201390."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02409662"},{"key":"e_1_2_1_4_1","first-page":"513","article-title":"Frequency of the fragile X syndrome in infantile autism","volume":"26","author":"Blomquist HK","year":"1984","journal-title":"Clin Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278849"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279401"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90231-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01531375"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140412"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140413"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291567"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.143.3.256"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284433"},{"key":"e_1_2_1_14_1","first-page":"7","volume-title":"The Fragile X Syndrome: Diagnosis, Biochemistry and Inter\u2010vention","author":"Hagerman RJ","year":"1983"},{"key":"e_1_2_1_15_1","first-page":"83","volume-title":"The Fragile X Syndrome: Diagnosis, Biochemistry and Intervention","author":"Hagerman RJ","year":"1983"},{"key":"e_1_2_1_16_1","unstructured":"HagermanRJ JacksonAW LevitasA RimlandB BradenM(1986): An analysis of autism in fifty males with the fragile X syndrome.Am J Med Genet(in press)."},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00333538"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070408"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.1984.tb01240.x"},{"key":"e_1_2_1_20_1","first-page":"640","article-title":"Fragile (X) X\u2010linked mental retardation II. Frequency and replication pattern of fragile (X) (q28) in heterozygotes","volume":"36","author":"Knoll JH","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","volume-title":"Autism Screening Instrument for Educational Planning, Revised","author":"Krug BA","year":"1980"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-198309000-00002"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293042"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01531374"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287638"},{"key":"e_1_2_1_26_1","unstructured":"Peabody Picture Vocabulary Test(1981):American Guidance Service. Public Building Circle Pine Minnesota."},{"key":"e_1_2_1_27_1","first-page":"15","article-title":"Pericentric inversion of chromosome number 2","volume":"3","author":"Phelan MC","year":"1984","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1984.tb00830.x"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170115"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.2.85"},{"key":"e_1_2_1_31_1","first-page":"286","article-title":"Activity of the fragile X in heterozygous carriers","volume":"34","author":"Uchida IA","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_32_1","first-page":"861","article-title":"Additional evidence for fragile X activity in heterozygous carriers","volume":"35","author":"Uchida IA","year":"1983","journal-title":"Am'J Hum Genet"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.1.44"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230129","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T11:33:15Z","timestamp":1693481595000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,1]]},"references-count":32,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1986,1]]}},"alternative-id":["10.1002\/ajmg.1320230129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230129","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,1]]}}}