{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:14:47Z","timestamp":1757700887758,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T00:00:00Z","timestamp":1502841600000},"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":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high\u2010pitched cat\u2010like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1\u2013p15.2 and 5q14.3\u2013q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot. The deletions were characterized using GTG banding and aCGH microarray analysis. Concurrent 5p and 5q interstitial deletions in humans have not been previously reported. We also discussed the relationship between the 5q deleted region and clubfeet.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38386","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T07:51:00Z","timestamp":1502956260000},"page":"2798-2802","source":"Crossref","is-referenced-by-count":2,"title":["Interstitial deletion 5p14.1\u2010p15.2 and 5q14.3\u2010q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2672-2493","authenticated-orcid":false,"given":"Burhan","family":"Balta","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kayseri Training and Research Hospital Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Erdogan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kayseri Training and Research Hospital Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse B.","family":"Ergul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kayseri Training and Research Hospital Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7831-067X","authenticated-orcid":false,"given":"Yavuz","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics NecipFaz\u0131l State Hospital Kahramanmaras Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"Ozcan","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Department of Pediatric Hematology Oncology Erciyes University Kayseri Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-871656"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.4.312"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30837"},{"key":"e_1_2_8_7_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1399-0004.1983.tb01867.x","article-title":"Interstitial deletion in the long arm of chromosome no. 5","volume":"2","author":"Harprecht\u2010Beato W.","year":"1983","journal-title":"Clinical Genetics"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80004-0"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.61"},{"key":"e_1_2_8_10_1","first-page":"3098","article-title":"Trois cas de deletion partielle du bras court d'un chromosome 5","volume":"257","author":"Lejeune J. 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