{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:45:35Z","timestamp":1778636735404,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T00:00:00Z","timestamp":1441929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Feingold syndrome\u20102 has been recently shown to be caused by germline heterozygous deletions of <jats:italic>MIR17HG<\/jats:italic> with 10 reported patients to date. Manifestations common to both Feingold syndrome\u20101 and Feingold syndrome\u20102 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome\u20102 lack gastrointestinal atresias. Here we describe a 14\u2010year\u2010old male patient who presented to our Cardiovascular Genetics Clinic with a history of a bicuspid aortic valve with aortic stenosis, short stature, hearing loss, and mild learning disabilities. Upon examination he was noted to have dysmorphic features and brachydactyly of his fingers and toes. His head circumference was 54.5\u2009cm (25th\u201350th centile) and his height was 161.3\u2009cm (31st centile) after growth hormone therapy. A skeletal survey noted numerous abnormalities prompting suspicion for Feingold syndrome. A comparative genomic hybridization microarray was completed and a \u223c3.6\u2009Mb interstitial heterozygous deletion at 13q31.3 including <jats:italic>MIR17HG<\/jats:italic> was found consistent with Feingold syndrome\u20102. Clinically, this patient has the characteristic digital anomalies and short stature often seen in Feingold syndrome\u20102 with less common features of a congenital heart defect and hearing loss. Although non\u2010skeletal features have been occasionally reported in Feingold syndrome\u20101, only one other patient with a 13q31 microdeletion including <jats:italic>MIR17HG<\/jats:italic> has had non\u2010skeletal manifestations. Additionally, our patient does not have microcephaly and, to our knowledge, is the first reported pediatric patient with Feingold syndrome\u20102 without this feature. This report illustrates significant phenotypic variability within the clinical presentation of Feingold syndrome\u20102 and highlights considerable overlap with Feingold syndrome\u20101. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37368","type":"journal-article","created":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T07:35:42Z","timestamp":1441956942000},"page":"3219-3225","source":"Crossref","is-referenced-by-count":14,"title":["Expanding the phenotype of feingold syndrome\u20102"],"prefix":"10.1002","volume":"167","author":[{"given":"Lauren E.","family":"Grote","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena A.","family":"Repnikova","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Laboratories Children's Mercy Hospital University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shivarajan M.","family":"Amudhavalli","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital University of Missouri\u2010Kansas City School of Medicine Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490303"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32444"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20471"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130970"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.915"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<245::AID-AJMG7>3.0.CO;2-K"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102014\u2010207501"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000069"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20750"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.10.002"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8690"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835f56b3"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35781"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.01.006"}],"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.37368","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:27:47Z","timestamp":1696634867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,11]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37368"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37368","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,11]]}}}