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Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 until 2007 when noted in over 50% of a clinically characterized cohort. We report a patient with hypoplastic left heart syndrome whose diagnosis of PTLS was delayed until a genetic evaluation at age 4 years because of severe expressive language impairment. We suggest that array comparative genomic hybridization be performed in infants with severe congenital heart defects. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33844","type":"journal-article","created":{"date-parts":[[2011,1,13]],"date-time":"2011-01-13T22:57:54Z","timestamp":1294959474000},"page":"363-366","source":"Crossref","is-referenced-by-count":29,"title":["The severe end of the spectrum: Hypoplastic left heart in Potocki\u2010Lupski syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Amarilis","family":"Sanchez\u2010Valle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ella","family":"Pierpont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,1,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.11.049"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-154"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(01)00160-9"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00420-0"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80605-5"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03940"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.4.328"},{"key":"e_1_2_5_9_1","first-page":"1072","article-title":"Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically to bicuspid aortic valve","volume":"24","author":"Hinton RB","year":"2009","journal-title":"J Am Coll Cardiol"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01886-7"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0297"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm42"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20169"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn187"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.255"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/71743"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000095625.14160.AB"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31818095d0"},{"key":"e_1_2_5_20_1","article-title":"Potocki\u2010Lupski syndrome: A microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive","author":"Soler\u2010Alfonso C","year":"2010","journal-title":"J Pediatr"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01422.x"},{"key":"e_1_2_5_22_1","first-page":"501","article-title":"Smith\u2010Magenis syndrome and tetralogy of Fallot","volume":"36","author":"Sweeney E","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000021032"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e3181cda67e"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30601"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30948"},{"key":"e_1_2_5_27_1","unstructured":"YusupovR RobertsA LacroRV SandstromM LigonAH.2008.Somatic reversion? 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