{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:29Z","timestamp":1761718169594},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"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":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here, we describe the clinical features of a boy with a 5.6\u2010Mb deletion at chromosome 7p15.1\u2013p15.3. He has mild facial anomalies, hand\u2010foot abnormalities, hypospadias, congenital heart defects, and supernumerary nipples. This deletion was detected by array comparative genomic hybridization and verified by fluorescence in situ hybridization using BACs selected from the USCS genome browser. This deletion was not found in subsequent FISH analysis of the parental chromosomes. The deleted region contains several genes, including contiguous developmental genes on the <jats:italic>HOXA<\/jats:italic> cluster, which play a role in regulating aspects of morphogenesis during normal embryonic development. The patient's limb and urogenital features were similar to those observed in hand\u2010foot\u2010genital syndrome, which is caused by haploinsufficiency of <jats:italic>HOXA13<\/jats:italic>, whereas the congenital heart defect may reflect the deletion of <jats:italic>HOXA3<\/jats:italic>. We hypothesized that many clinical features of the patient were due to combined haploinsufficiency of the <jats:italic>HOXA<\/jats:italic> cluster. Our study also demonstrates the clinical usefulness of a molecular cytogenetic tool that is capable of detecting imbalances in the genome. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33860","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:48:08Z","timestamp":1298483288000},"page":"642-647","source":"Crossref","is-referenced-by-count":12,"title":["Molecular cytogenetic and clinical characterization of a patient with a 5.6\u2010Mb deletion in 7p15 including <i>HOXA<\/i> cluster"],"prefix":"10.1002","volume":"155","author":[{"given":"Kyung Ran","family":"Jun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eul\u2010Ju","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin\u2010Ok","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han\u2010Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u2010Sook","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye\u2010Kyung","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/350473a0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302452"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302070"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302961"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10046"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2005.00059.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-179"},{"key":"e_1_2_7_9_1","volume-title":"ISCN 2009: An international system for human cytogenetic nomenclature (2009) recommendations of the International Standing Committee on Human cytogenetic Nomenclature","author":"Shaffer LG","year":"2009"}],"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.33860","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33860","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:08:02Z","timestamp":1696993682000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33860"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,22]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/ajmg.a.33860"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33860","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,22]]}}}