{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T07:40:48Z","timestamp":1772005248866,"version":"3.50.1"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T00:00:00Z","timestamp":1367193600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T00:00:00Z","timestamp":1367193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Perinatol"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1038\/jp.2012.77","type":"journal-article","created":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T09:47:35Z","timestamp":1367228855000},"page":"394-396","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal diagnosis of Potocki\u2013Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery"],"prefix":"10.1038","volume":"33","author":[{"given":"C","family":"Bravo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"G\u00e1mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1","family":"Aguar\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"De Le\u00f3n-Luis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,4,29]]},"reference":[{"issue":"4","key":"BFjp201277_CR1","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007; 80 (4): 633\u2013649.","journal-title":"Am J Hum Genet"},{"key":"BFjp201277_CR2","unstructured":"Medicine BCo. About Potocki-Lupski syndrome. Available from: http:\/\/www.bcm.edu\/genetics\/potocki_lupski\/20 January 2010 (cited 25 July 2011)."},{"issue":"2","key":"BFjp201277_CR3","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1136\/hrt.2010.206623","volume":"97","author":"J Marek","year":"2011","unstructured":"Marek J, Tomek V, Skovranek J, Povysilova V, Samanek M . Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart 2011; 97 (2): 124\u2013130.","journal-title":"Heart"},{"issue":"3","key":"BFjp201277_CR4","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1016\/j.ajhg.2010.02.001","volume":"86","author":"F Zhang","year":"2010","unstructured":"Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 2010; 86 (3): 462\u2013470.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"BFjp201277_CR5","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1002\/ajmg.a.33844","volume":"155A","author":"A Sanchez-Valle","year":"2011","unstructured":"Sanchez-Valle A, Pierpont ME, Potocki L . The severe end of the spectrum: hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A 2011; 155A (2): 363\u2013366.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"BFjp201277_CR6","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/ajmg.a.33845","volume":"155A","author":"R Yusupov","year":"2011","unstructured":"Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH . Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A 2011; 155A (2): 367\u2013371.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"BFjp201277_CR7","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1097\/MCD.0b013e3282358d21","volume":"16","author":"ML Robert","year":"2007","unstructured":"Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L et al. Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clin Dysmorphol 2007; 16 (4): 241\u2013246.","journal-title":"Clin Dysmorphol"},{"issue":"4","key":"BFjp201277_CR8","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1002\/uog.8952","volume":"37","author":"R Chaoui","year":"2011","unstructured":"Chaoui R, Heling KS, Lopez AS, Thiel G, Karl K . The thymic-thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol 2011; 37 (4): 397\u2013403.","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"9","key":"BFjp201277_CR9","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1002\/pd.2783","volume":"31","author":"J De Leon-Luis","year":"2011","unstructured":"De Leon-Luis J, Santolaya J, Gamez F, Pintado P, Perez R, Ortiz-Quintana L . Sonographic thymic measurements in Down syndrome fetuses. Prenat Diagn 2011; 31 (9): 841\u2013845.","journal-title":"Prenat Diagn"},{"issue":"5","key":"BFjp201277_CR10","doi-asserted-by":"publisher","first-page":"813","DOI":"10.7863\/jum.2012.31.5.813","volume":"31","author":"C Bravo","year":"2012","unstructured":"Bravo C, G\u00e1mez F, Pintado P, De Le\u00f3n-Luis J, P\u00e9rez R, Aguar\u00f3n A . Prenatal aberrant right subclavian artery: a hereditary malformation? J Ultrasound Med 2012; 31 (5): 813\u2013815.","journal-title":"J Ultrasound Med"},{"issue":"1 Suppl","key":"BFjp201277_CR11","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1016\/j.jacc.2011.09.022","volume":"59","author":"JA Feinstein","year":"2012","unstructured":"Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT et al. Hypoplastic left heart syndrome: current considerations and expectations. J Am Coll Cardiol 2012; 59 (1 Suppl): S1\u201342.","journal-title":"J Am Coll Cardiol"},{"issue":"12","key":"BFjp201277_CR12","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1016\/S0002-9149(03)00412-0","volume":"91","author":"AA Kon","year":"2003","unstructured":"Kon AA, Ackerson L, Lo B . Choices physicians would make if they were the parents of a child with hypoplastic left heart syndrome. Am J Cardiol 2003; 91 (12): 1506\u20131509, A1509.","journal-title":"Am J Cardiol"},{"issue":"Suppl 2","key":"BFjp201277_CR13","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1017\/S1047951107001187","volume":"17","author":"G Wernovsky","year":"2007","unstructured":"Wernovsky G, Ghanayem N, Ohye RG, Bacha EA, Jacobs JP, Gaynor JW et al. Hypoplastic left heart syndrome: consensus and controversies in 2007. Cardiol Young 2007; 17 (Suppl 2): 75\u201386.","journal-title":"Cardiol Young"},{"issue":"6","key":"BFjp201277_CR14","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1016\/j.athoracsur.2010.02.004","volume":"89","author":"A Patel","year":"2010","unstructured":"Patel A, Hickey E, Mavroudis C, Jacobs JP, Jacobs ML, Backer CL et al. Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome. Ann Thorac Surg 2010; 89 (6): 1805\u20131813; discussion 1813\u20131804.","journal-title":"Ann Thorac Surg"}],"container-title":["Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jp201277.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jp201277","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jp201277.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T15:15:32Z","timestamp":1647616532000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jp201277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,29]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["BFjp201277"],"URL":"https:\/\/doi.org\/10.1038\/jp.2012.77","relation":{},"ISSN":["0743-8346","1476-5543"],"issn-type":[{"value":"0743-8346","type":"print"},{"value":"1476-5543","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,29]]},"assertion":[{"value":"6 February 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 April 2012","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 May 2012","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2013","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}