{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:37:04Z","timestamp":1762659424322},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T00:00:00Z","timestamp":1435104000000},"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":[[2015,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and\/or other variable clinical features. 7q11.23 region deletion is the cause for Williams\u2013Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37226","type":"journal-article","created":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T12:50:25Z","timestamp":1435150225000},"page":"2727-2730","source":"Crossref","is-referenced-by-count":6,"title":["Familial 7q11.23 duplication with variable phenotype"],"prefix":"10.1002","volume":"167","author":[{"given":"Siddaramappa J.","family":"Patil","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Narayana Multispecialty Hospital Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smrithi","family":"Salian","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College Manipal University Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venkaraman","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Radiology Narayana Multispecialty Hospital Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College Manipal University Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yash","family":"Shrivastava","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Narayana Institute of Cardiac Sciences Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran","family":"VS","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Narayana Institute of Cardiac Sciences Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anilkumar","family":"Sapare","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Narayana Multispecialty Hospital Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3180986192"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070490"},{"key":"e_1_2_6_4_1","first-page":"263","article-title":"A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism","volume":"23","author":"De\u011ferliyurt A","year":"2012","journal-title":"Genet Couns"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.047092"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01862.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.10.002"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201540"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32235"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2013.05.040"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054064"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S146239940700035X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36859"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-014-2117-7"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051962"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.42"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.006"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36601"}],"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.37226","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:57:54Z","timestamp":1696625874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,24]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/ajmg.a.37226"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37226","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,24]]}}}