{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T22:35:25Z","timestamp":1778020525143,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,8,8]],"date-time":"2018-08-08T00:00:00Z","timestamp":1533686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","award":["337701"],"award-info":[{"award-number":["337701"]}],"id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Interstitial deletions of the distal short arm of chromosome 2 including <jats:italic>MYCN<\/jats:italic> have only been reported for a small number of individuals. Germline deletions and mutations of <jats:italic>MYCN<\/jats:italic> cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability. We present a series of six individuals referred for SNP microarray with overlapping deletions of 2p ranging from 3.4 to 16.8 Mb in size, with a common overlapping region of 1.53 Mb spanning (14,614,477\u201316,148,021) [hg19] and including five genes: <jats:italic>NBAS<\/jats:italic>, <jats:italic>DDX1<\/jats:italic>, <jats:italic>MYCNUT<\/jats:italic>, <jats:italic>MYCNOS<\/jats:italic>, and <jats:italic>MYCN<\/jats:italic>. Clinical information was available for five individuals. Clinical features included core features of FS1 such as microcephaly, digit anomalies, and gastrointestinal atresias as well as structural cardiac defects, hearing loss, and renal anomalies, which are features less consistently associated with FS1. Other features observed in several individuals, that have not specifically been associated with FS1 were motor delay, structural brain abnormalities, genital abnormalities, and radioulnar synostosis. These results indicate that while individuals with deletions of 2p spanning several megabases and including <jats:italic>MYCN<\/jats:italic> can present with features not typically associated with FS1, the common core features are usually present.<\/jats:p>","DOI":"10.1002\/ajmg.a.40355","type":"journal-article","created":{"date-parts":[[2018,8,8]],"date-time":"2018-08-08T13:04:11Z","timestamp":1533733451000},"page":"1956-1963","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Features of Feingold syndrome 1 dominate in subjects with 2p deletions including <i>MYCN<\/i>"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0063-2281","authenticated-orcid":false,"given":"Rachel D.","family":"Burnside","sequence":"first","affiliation":[{"name":"Laboratory Corporation of America Holdings Center for Molecular Biology and Pathology, Research Triangle Park  North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Molinari","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Holdings Center for Molecular Biology and Pathology, Research Triangle Park  North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Botti","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Rutgers\u2010Robert Wood Johnson Medical School  New Brunswick New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan Sklower","family":"Brooks","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Rutgers\u2010Robert Wood Johnson Medical School  New Brunswick New Jersey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University  New York New York"},{"name":"Department of Medicine Columbia University  New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmi","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Holdings Center for Molecular Biology and Pathology, Research Triangle Park  North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Papenhausen","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Holdings Center for Molecular Biology and Pathology, Research Triangle Park  North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302779"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.003"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.225"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<251::AID-AJMG1>3.0.CO;2-X"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103393"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw082"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1211097"},{"key":"e_1_2_7_10_1","volume-title":"GeneReviews(R)","author":"Marcelis C. 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