{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,8]],"date-time":"2024-09-08T20:20:20Z","timestamp":1725826820034},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T00:00:00Z","timestamp":1468540800000},"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":[[2016,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>Interstitial deletions of the long arm of chromosome 1 are rare, and recent reports of individuals with molecularly characterized deletions have resulted in advances in genotype\u2013phenotype correlation. The recognizable phenotype associated with 1q23.3\u2010q25.1 includes pre\u2010 and post\u2010natal growth retardation, microcephaly, intellectual disability, delayed language acquisition, small hands and feet with brachydactyly and single palmar crease, and distinctive facial features including short bulbous nose, micrognathia, and ear malformations. We report a patient with an 11.35\u2009Mb deletion from 1q23.3\u2010q25.1 who has these features in addition to a rarely reported complication\u2014profound sensorineural hearing loss. He has both pre\u2010 and post\u2010natal growth deficiency and growth hormone deficiency that was diagnosed at age 2 years. However, unlike other individuals with this deletion and growth hormone deficiency, this boy has responded to treatment with human growth hormone. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37843","type":"journal-article","created":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T06:03:46Z","timestamp":1468562626000},"page":"3013-3017","source":"Crossref","is-referenced-by-count":7,"title":["Nine year old boy with chromosome 1q23.3\u2010q25.1 deletion"],"prefix":"10.1002","volume":"170","author":[{"given":"Felicia","family":"Lam","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Nevada School of Medicine Las Vegas Nevada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"Morris","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Pediatrics University of Nevada School of Medicine Las Vegas Nevada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34049"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.06.004"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36856"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32006"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.6.486"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32550"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200903"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33786"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.10.1237"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32006"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33371"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10068"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00890.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5344.1809"}],"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.37843","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37843","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37843","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:35Z","timestamp":1696648415000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,15]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37843"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37843","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,15]]}}}