{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T07:40:50Z","timestamp":1772005250087,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"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":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Potocki\u2013Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6\u2009Mb microdeletion in the Smith\u2013Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent\u2013child pair and exemplifies the under\u2010diagnosis of this and likely other genetic conditions in adults with intellectual disability and\/or psychiatric disorders. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36287","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T18:32:37Z","timestamp":1386268357000},"page":"500-504","source":"Crossref","is-referenced-by-count":26,"title":["Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki\u2013Lupski syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Pilar L.","family":"Magoulas","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violet","family":"Gelowani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Soler\u2010Alfonso","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma C.","family":"Kivuva","sequence":"additional","affiliation":[{"name":"Royal Devon and Exeter NHS Foundation Trust Exeter United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379979"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-200208000-00007"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.152454.112"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e3182329723"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.09.009"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.009"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0000327"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/71743"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000543"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33844"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.09.062"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.04.009"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e3181cda67e"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33845"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.001"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470414"}],"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.36287","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:19:40Z","timestamp":1696583980000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,5]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1002\/ajmg.a.36287"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36287","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,5]]}}}