{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T22:16:51Z","timestamp":1759961811320},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,26]],"date-time":"2002-12-26T00:00:00Z","timestamp":1040860800000},"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":[[2003,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report cytogenetic and molecular findings in a family in which Pelizaeus\u2010Merzbacher disease has arisen by a sub\u2010microscopic duplication of the proteolipid protein (<jats:italic>PLP1<\/jats:italic>) gene involving the insertion of \u223c600 kb from Xq22 into Xq26.3. The duplication arose in an asymptomatic mother on a paternally derived X chromosome and was inherited by her son, the proband, who is affected with Pelizaeus\u2010Merzbacher disease. The mother also carries a large interstitial deletion of \u223c70 Mb extending from Xq21.1 to Xq27.3, which is present in a mosaic form. In lymphocytes, the mother has no normal cells, having one population with three copies of the <jats:italic>PLP1<\/jats:italic>gene (one normal X and one duplication X chromosome) and the other population having only one copy of the <jats:italic>PLP1<\/jats:italic> gene (one normal X and one deleted X chromosome). Her karyotype is 46,XX.ish dup (X) (Xpter\u2009\u2192\u2009Xq26.3::Xq22\u2009\u2192\u2009Xq22::Xq26.3\u2009\u2192\u2009Xqter)(PLP++)\/46,X,del(X)(q21.1q27.3).ish del(X)(q21.1q27.3)(PLP\u2212). Both ends of the deletion have been mapped by fluorescence in situ hybridization using selected DNA clones and neither involves the <jats:italic>PLP1<\/jats:italic> gene or are in the vicinity of the duplication breakpoints. Prenatal diagnosis was carried out in a recent pregnancy and the complex counseling issues associated with these chromosomal rearrangements are discussed. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10103","type":"journal-article","created":{"date-parts":[[2003,3,18]],"date-time":"2003-03-18T23:06:31Z","timestamp":1048028791000},"page":"15-24","source":"Crossref","is-referenced-by-count":12,"title":["Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus\u2010Merzbacher disease"],"prefix":"10.1002","volume":"118A","author":[{"given":"Karen","family":"Woodward","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Cundall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodger","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Surtees","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin M.","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue","family":"Malcolm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,26]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200101)21:1<27::AID-PD971>3.0.CO;2-R"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.6.1025"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.8.8.758"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-333"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200394"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000111361"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302965"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302982"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.5.597"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-236"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(98)01555-8"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000364"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207388"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302483"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/71743"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05487-3"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1035"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.6.1749"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/301933"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199903)19:3<266::AID-PD515>3.0.CO;2-#"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200480"}],"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.10103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:13:14Z","timestamp":1697656394000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,26]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["10.1002\/ajmg.a.10103"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10103","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,26]]}}}