{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:19:48Z","timestamp":1790785188912,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T00:00:00Z","timestamp":1047340800000},"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":[[2003,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 5\u2010year\u2010old girl with developmental and growth retardation is reported with complex chromosome rearrangements consisting of a partial Xq deletion and an abnormal chromosome 3 with multiple breakpoints. GTG\u2010banding, and multiplex and conventional FISH studies showed that a 6.6\u2010Mb Xq22\u2010q23 segment was inserted into 3q, in addition to three intrachromosomal insertions in chromosome 3. Her karyotype was thus interpreted as 46,X,der(X)(Xpter\u2192Xq22::Xq23\u2192Xqter),der(3)(3pter\u21923p26::3p12\u21923q25.3::3p12\u21923p26::Xq22\u2192Xq23::3q25.3\u21923qter). Replication R\u2010banding study showed that the der(X) was inactivated in all blood lymphocytes analyzed. Methylation\u2010specific PCR at the androgen receptor gene (<jats:italic>HUMARA<\/jats:italic>) locus at Xq11\u2010q12 showed a skewed inactivation pattern with the active\/inactive X chromosome ratio of 92\/8. These data indicated the presence, in the majority of cells, of a functioning Xq22\u2010q23 segment in both the normal X and the der(3) chromosomes. Her growth retardation, developmental delay, and other minor anomalies were most likely caused by dosage effects of the genes in the functionally disomic Xq22\u2010q23 region. Despite the presence of two active copies of the proteolipid protein 1 gene (<jats:italic>PLP1<\/jats:italic>), she did not show the symptoms of Pelizaeus\u2010Merzbacher disease, a subset of which has been known to be caused by the duplication of <jats:italic>PLP1<\/jats:italic>. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20096","type":"journal-article","created":{"date-parts":[[2003,7,23]],"date-time":"2003-07-23T10:12:06Z","timestamp":1058955126000},"page":"557-561","source":"Crossref","is-referenced-by-count":8,"title":["Functional disomy for Xq22\u2010q23 in a girl with complex rearrangements of chromosomes 3 and X"],"prefix":"10.1002","volume":"120A","author":[{"given":"Tomoko","family":"Ida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Miharu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Hayashitani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Samura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeo","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284707"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000111361"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10257"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1022"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050909"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276593"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000703)93:1<52::AID-AJMG9>3.0.CO;2-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302483"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420205"},{"key":"e_1_2_5_12_1","first-page":"741","article-title":"Inherited X\u2010chromosome inverted tandem duplication in a male traced to a grandparental mitotic error","volume":"38","author":"Schwartz S","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.6.1749"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291574"},{"key":"e_1_2_5_15_1","first-page":"219","article-title":"X\u2010autosome translocations: A review","volume":"14","author":"Summitt RL","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010315)99:3<196::AID-AJMG1157>3.0.CO;2-A"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20096","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20096","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T14:14:21Z","timestamp":1696947261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,11]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["10.1002\/ajmg.a.20096"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20096","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,11]]}}}