{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:59:51Z","timestamp":1792173591874,"version":"4.4.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T00:00:00Z","timestamp":1335139200000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplications of Xq28 harboring the methyl CpG binding protein 2 (<jats:italic>MECP2<\/jats:italic>) gene explain approximately 1% of X\u2010linked intellectual disability (XLID). The common clinical features observed in patients with dup(X)(q28) are severe ID, infantile hypotonia, mild dysmorphic features and a history of recurrent infections, and <jats:italic>MECP2<\/jats:italic> duplication syndrome is now recognized as a clinical entity. While some patients with this syndrome have other characteristic phenotypes, the reason for the spectrum of phenotypes has not been clarified. Since dup(X)(q28) rearrangements vary in size and location, genes other than <jats:italic>MECP2<\/jats:italic> might affect the phenotype. We used a high\u2010density oligonucleotide array to carry out precise mapping in eight Japanese families in which dup(X)(q28) was detected using an in\u2010house bacterial artificial chromosome\u2010based microarray to screen cohorts of individuals with multiple congenital anomalies and intellectual disability (MCA\/ID) or with XLID. We hypothesized that the size, gene content, and location of dup(X)(q28) may contribute to variable expressively observed in <jats:italic>MECP2<\/jats:italic> duplication syndrome. Genotype\u2013phenotype correlation in our cases together with cases reported in the literature suggested that copy\u2010number gains between two low copy repeats (LCRK1 and LCRL1) are associated with the incidence of hypoplasia of the corpus callosum. Further studies are necessary to understand the mechanism of this association. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35321","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T21:27:55Z","timestamp":1335216475000},"page":"1292-1303","source":"Crossref","is-referenced-by-count":15,"title":["The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving <i>MECP2<\/i> is associated with the location of distal breakpoints"],"prefix":"10.1002","volume":"158A","author":[{"given":"Shozo","family":"Honda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takaya","family":"Nakane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Yoshihashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeo","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"149","volume-title":"Handbook of clinical neurology, Vol 6. 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