{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T08:40:01Z","timestamp":1697704801379},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,7,16]],"date-time":"2009-07-16T00:00:00Z","timestamp":1247702400000},"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":[[2009,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Extra structurally abnormal chromosomes (ESACs) derived from the X chromosome are rare. We report a non\u2010mosaic ESAC derived from the X chromosome in a 3\u2010year\u2010old female who presented with early hypotonia, developmental delay, hypertelorism, low set ears, and small hands and feet. The breakpoints of the ESAC were mapped by SNP microarray to Xp11.1\u2010p11.22, a region encompassing 7.17\u2009Mb and containing 110 known or putative genes and excluding the X\u2010inactivation center. A review of other reported patients with karyotypes that cause functional disomy of proximal Xp allows delineation of a common phenotype comprising early hypotonia, cognitive impairment, hypertelorism, myopia, small hands and feet and abnormal external ears. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32954","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T17:01:29Z","timestamp":1247850089000},"page":"1763-1767","source":"Crossref","is-referenced-by-count":1,"title":["Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment"],"prefix":"10.1002","volume":"149A","author":[{"given":"Matthew","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0023-3"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291656"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.9.4028"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/11887"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470804"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050848"},{"key":"e_1_2_5_8_1","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner RJM","year":"2004"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<191::AID-AJMG18>3.0.CO;2-0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/427563"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03505.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610111.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30652"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000048822"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02564.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<44::AID-AJMG8>3.0.CO;2-Z"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.24.12025"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1779"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.3.222"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/375116"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90552-5"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580205.x"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<216::AID-AJMG6>3.0.CO;2-X"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04310.x"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<45::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051015"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.003"}],"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.32954","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:48Z","timestamp":1697603028000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,16]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32954"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32954","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,16]]}}}