{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:56Z","timestamp":1761101816570},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T00:00:00Z","timestamp":1173225600000},"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":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two patients; a female having mild mental retardation (MR) with a balanced translocation, 46,XX,t(X;15)(q28;p11.2), and a male diagnosed as having mucopolysaccharidosis type II (MPS II or Hunter syndrome) with atypical early\u2010onset MR and a normal male karyotype. Molecular cytogenetic analyses, including fluorescence in situ hybridization and array\u2010based comparative genomic hybridization using an in\u2010house X\u2010tiling array, revealed that first patient to have a breakpoint at Xq28 lying within the <jats:italic>FMR2<\/jats:italic> gene and the second to have a small deletion at Xq28 including part of <jats:italic>FMR2<\/jats:italic> together with the <jats:italic>IDS<\/jats:italic> gene responsible for MPS II. In Patient 1, X\u2010chromosome inactivation predominantly occurred in the normal X in her lymphocytes, suggesting that her MR might be explained by a disruption of the <jats:italic>FMR2<\/jats:italic> gene on der(X) t(X;15) concomitant with the predominant inactivation of the intact <jats:italic>FMR2<\/jats:italic> gene in another allele. We compared phenotypes of Patient 2 with those of MPS II cases with deletion of the <jats:italic>IDS<\/jats:italic> gene alone reported previously, suggesting that the early\u2010onset MR might be affected by the additional deletion of <jats:italic>FMR2<\/jats:italic>. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31638","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T22:37:45Z","timestamp":1173307065000},"page":"687-693","source":"Crossref","is-referenced-by-count":15,"title":["Clinical and molecular cytogenetic characterization of two patients with non\u2010mutational aberrations of the <i>FMR2<\/i> gene"],"prefix":"10.1002","volume":"143A","author":[{"given":"Shozo","family":"Honda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yo","family":"Niida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torayuki","family":"Okuyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuki","family":"Mizutani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.615"},{"key":"e_1_2_5_5_1","first-page":"903","article-title":"The 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