{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T07:13:28Z","timestamp":1713770008775},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4481,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the first case of a 46,XY\/47,XYY mosaic male with fragile X[Fra(X)] expression in both cell lines. Cytogenetic analysis, DNA linkage analysis, and direct detection of the pre\u2010 and full mutation for the affected individual and his at\u2010risk female relatives were performed. Southern analysis of PstI\u2010digested DNA with probe pX6 clearly distinguished the normal genotype, the premutation, and the full mutation in various individuals in the patient's family. Fra(X) carriers who had normal cytogenetic results were clearly identified by direct mutation analysis. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450514","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"589-593","source":"Crossref","is-referenced-by-count":8,"title":["46,XY\/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies"],"prefix":"10.1002","volume":"45","author":[{"given":"Aubrey","family":"Milunsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinli","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean A.","family":"Amos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel","family":"Herskowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay A.","family":"Farrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herman E.","family":"Wyandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(84)90059-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284722"},{"key":"e_1_2_1_4_1","first-page":"362","article-title":"Dystrophin analysis in Duchene muscular dystrophy: Use in fetal diagnosis and in genetic counseling","volume":"45","author":"Bieber FR","year":"1989","journal-title":"Am J Hum Genet"},{"issue":"4","key":"e_1_2_1_5_1","first-page":"257","article-title":"Sex chromosomal and autosomal aneuploidy in the fragile X syndrome","volume":"26","author":"Chudley AE","year":"1991","journal-title":"Birth Defects: Original Article Series"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140412"},{"key":"e_1_2_1_7_1","first-page":"43A","article-title":"Expression of FUdR induced fragile (fra) sites in a newborn (NB) and a mentally retarded (MR) population\u2014Phenotypic effects and possible association of rare autosomal folate sensitive fra sites and idiopathic MR","volume":"43","author":"Chudley AE","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291157"},{"key":"e_1_2_1_9_1","first-page":"166","article-title":"Addendum to \u201cA technique for radiolabeling DNA restriction endonuclease fragment to high specific activity\u201d","volume":"137","author":"Feinberg AP","year":"1984","journal-title":"Anal Biochem"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291682"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300109"},{"key":"e_1_2_1_13_1","first-page":"234","article-title":"FUdR induction of the X chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition","volume":"33","author":"Glover TW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1399-0004.1983.tb01973.x","article-title":"Marker\u2010X\u2010associated mental retardation. 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