{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T08:10:02Z","timestamp":1698826202610},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T00:00:00Z","timestamp":1264377600000},"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":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplications involving portions of the long arm of the X\u2010chromosome can be associated with mental retardation, short stature, microcephaly, panhypopituitarism, and a wide range of physical findings. Less common are duplications in distal Xq associated with hemihyperplasia and digital anomalies. We report on a 4\u2010year\u2010old female with hemihyperplasia, syndactyly of fingers and toes, bilateral 5th finger clinodactyly, short stature, developmental delay, and microcephaly associated with an 11.2\u2009Mb duplication of Xq25\u2013Xq27.1. The boundaries of this duplication were mapped using high resolution array comparative genome hybridization and follow\u2010up studies revealed that the same duplication was carried by the patient's mother who has short stature and cognitive disabilities. Using the duplication boundaries from this case, and data from previously published reports, we have delineated a 1.65\u2009Mb critical region for hemihyperplasia and digital anomalies on chromosome Xq25. Based on these findings physicians should consider obtaining array comparative genome hybridization studies on individuals with hemihyperplasia especially when accompanied by digital findings since identification of an Xq25 duplication can dramatically change recurrence risk estimations and may also provide insight into the possible comorbidities. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33227","type":"journal-article","created":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T19:33:25Z","timestamp":1264448005000},"page":"453-458","source":"Crossref","is-referenced-by-count":9,"title":["Delineation of a 1.65\u2009Mb critical region for hemihyperplasia and digital anomalies on Xq25"],"prefix":"10.1002","volume":"152A","author":[{"given":"Christian B.","family":"Ricks","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruchi","family":"Masand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin K.","family":"Roney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,1,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1150>3.0.CO;2-C"},{"key":"e_1_2_6_3_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_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10727"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg582"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055244"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30613"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<404::AID-AJMG13>3.0.CO;2-L"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050910"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6327"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<274::AID-AJMG8>3.0.CO;2-M"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1175-x"},{"key":"e_1_2_6_13_1","first-page":"910","article-title":"X\u2010Linked recessive panhypopituitarism associated with a regional duplication in Xq25\u2010q26","volume":"60","author":"Lagerstrom\u2010Fermer M","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.14.4954"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<227::AID-AJMG10>3.0.CO;2-Q"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M700246200"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1203\/pdr.0b013e3180457660"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6741"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016949"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30910"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30359"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<302::AID-AJMG4>3.0.CO;2-D"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-61-729-851"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.11.891"}],"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.33227","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T22:56:45Z","timestamp":1698793005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,25]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/ajmg.a.33227"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33227","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,25]]}}}