{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:47:20Z","timestamp":1790419640443,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"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":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high\u2010resolution array has not been reported in the evaluation of this group of patients. CHDs are reported in about 60% of patients with 4q deletion syndrome, occurring in the presence or absence of<jats:italic>dHAND<\/jats:italic>deletion, implying the existence of additional genes in 4q whose dosage influences cardiac development. We report an 8\u2010month\u2010old patient with a large mid\u2010muscular to outlet ventricular septal defect (VSD), moderate\u2010sized secundum\u2010type atrial septal defect (ASD), thickened, dysplastic pulmonary valve with mild stenosis and moderate pulmonic regurgitation, and patent ductus arteriosus (PDA). Illumina CytoSNP array analysis disclosed a de novo, heterozygous, interstitial deletion of 11.6\u2009Mb of genomic material from the long arm of chromosome 4, at 4q32.3\u2013q34.3 (Chr4:167236114\u2013178816031; hg18). The deleted region affects 37 RefSeq genes (hg18), including two provisional microRNA stemloops. Three genes in this region, namely<jats:italic>TLL1<\/jats:italic>(Tolloid\u2010like\u20101),<jats:italic>HPGD<\/jats:italic>(15\u2010hydroxyprostaglandin dehydrogenase), and<jats:italic>HAND2<\/jats:italic>(Heart and neural crest derivatives\u2010expressed protein 2), are known to be involved in cardiac morphogenesis. This report narrows the critical region responsible for CHDs seen in 4q deletion syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34425","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T19:37:04Z","timestamp":1328211424000},"page":"635-640","source":"Crossref","is-referenced-by-count":43,"title":["Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2\u2013q34.3"],"prefix":"10.1002","volume":"158A","author":[{"given":"Wenbo","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayesha","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Dagenais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramaswamy K.","family":"Iyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318177015c"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.12.2631"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0202-91"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20561"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200211000-00011"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32458"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1134>3.0.CO;2-D"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.09.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310308"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080110"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.224.428"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098918"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.3760\/cma.j.issn.0366-6999.2010.13.002","article-title":"Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease","volume":"123","author":"Shen L","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697-154"},{"key":"e_1_2_6_16_1","first-page":"344","article-title":"Mutations in mammalian tolloid\u2010like 1 gene detected in adult patients with ASD","volume":"17","author":"Stanczak P","year":"2009","journal-title":"Eur J Med Genet"},{"key":"e_1_2_6_17_1","first-page":"327","article-title":"The 4q\u2010syndrome","volume":"14","author":"Strehle EM","year":"2001","journal-title":"Genet Couns"},{"key":"e_1_2_6_18_1","first-page":"195","article-title":"The phenotype of patients with 4q\u2010syndrome","volume":"14","author":"Strehle EM","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.153"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8856"},{"key":"e_1_2_6_21_1","first-page":"158","article-title":"Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q\u2010 syndrome","volume":"24","author":"Yu CW","year":"1981","journal-title":"Ann Genet"}],"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.34425","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T21:52:26Z","timestamp":1713477146000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,2]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.34425"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34425","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,2]]}}}