{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:04Z","timestamp":1747146124271,"version":"3.40.5"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T00:00:00Z","timestamp":1557273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Potocki\u2013Lupski syndrome (PTLS) is a genetic disorder that results from an interstitial duplication within chromosome 17p11.2. Children with PTLS typically present with infantile hypotonia, failure to thrive, and global developmental delay with or without major organ system involvement. Systematic clinical studies regarding growth, cardiovascular disease, and neurocognitive profiles have been published; however, systematic evaluation of central nervous system structure by magnetic resonance imaging (MRI) of the brain has not been reported. Herein, we describe three patients with PTLS who were found\u2014in the course of routine clinical care\u2014to have a type 1 Arnold\u2010Chiari malformation (CM\u20101). This finding raises the question of whether the incidence of CM\u20101 is increased in PTLS, and hence, if an MRI of the brain should be considered in the evaluation of all patients with this chromosomal duplication syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61187","type":"journal-article","created":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T09:42:56Z","timestamp":1557308576000},"page":"1366-1370","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Arnold\u2010Chiari type 1 malformation in Potocki\u2013Lupski syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8447-4067","authenticated-orcid":false,"given":"Alberto","family":"Varon","sequence":"first","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami  Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary","family":"Whitt","sequence":"additional","affiliation":[{"name":"Medical College of Georgia, Augusta University  Augusta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paige M.","family":"Kalika","sequence":"additional","affiliation":[{"name":"Department of Neurology, Miller School of Medicine University of Miami  Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Texas Children's Hospital  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah S.","family":"Barbouth","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami  Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1296-5286","authenticated-orcid":false,"given":"Katherina","family":"Walz","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine University of Miami  Miami Florida"},{"name":"John P. Hussman Institute for Human Genomics, University of Miami  Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/831569"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045155"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/1971400915576665"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-017-2915-8"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0000000000000131"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/zsx069"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35399"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e3182329723"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.12.009"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002713"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36287"},{"key":"e_1_2_7_13_1","first-page":"1079","article-title":"Sleep apnea as an independent risk factor for all\u2010cause mortality: The Busselton Health Study","volume":"31","author":"Marshall N. S.","year":"2008","journal-title":"Sleep"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328303b9c2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1564443"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302240"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/71743"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26042"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.09.062"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/head.12341"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e3181cda67e"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33845"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.001"}],"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.61187","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61187","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61187","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61187","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T10:01:14Z","timestamp":1694340074000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,8]]},"references-count":23,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1002\/ajmg.a.61187"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61187","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,5,8]]},"assertion":[{"value":"2018-12-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}