{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T07:40:55Z","timestamp":1697096455816},"reference-count":16,"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>We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT\u2010proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555\u2009kb on chromosome 16p13.3, 444\u2009kb telomeric to the <jats:italic>CREBBP<\/jats:italic> gene and 623\u2009kb centromeric of PKD1. Review of the literature revealed numerous reports of individuals with deletions involving adjacent regions including CREBBP, but only one overlapping with this isolated region of 16p13.3. Haploinsufficiency for one or more of the 25 candidate genes in the deleted genomic region may be responsible for these clinical features. No copy number variants (CNVs) span the entire region, but several small CNVs within the 555\u2009kb genomic region reduce the likelihood for effects due to haploinsufficiency to 18 genes. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33808","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:29:41Z","timestamp":1298482181000},"page":"612-617","source":"Crossref","is-referenced-by-count":5,"title":["Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion"],"prefix":"10.1002","volume":"155","author":[{"given":"Marc","family":"Nelson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shane","family":"Quinonez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Todd","family":"Ackley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram K.","family":"Iyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey W.","family":"Innis","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":"10.1002\/gcc.2870130404"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318177015c"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0215-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200378"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.06.009"},{"key":"e_1_2_7_7_1","first-page":"13","article-title":"Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating","volume":"15","author":"Cohen MM","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7660122"},{"key":"e_1_2_7_9_1","first-page":"255","article-title":"Deletion at chromosome 16p13.3 as a cause of Rubinstein\u2013Taybi syndrome: clinical aspects","volume":"52","author":"Hennekam R","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_10_1","first-page":"3199","article-title":"Testisin, a new human serine proteinase expressed by premeiotic testicular germ cells and lost in testicular germ cell tumors","volume":"59","author":"Hooper JD","year":"1999","journal-title":"Cancer Res"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00438.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.284.5414.657"},{"key":"e_1_2_7_13_1","first-page":"4544","article-title":"Cellular proteins that bind the von Hippel\u2013Lindau disease gene product: mapping of binding domains and the effect of missense mutations","volume":"55","author":"Kishida T","year":"1995","journal-title":"Cancer Res"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1128\/MCB.18.2.732","article-title":"Regulation of hypoxia\u2010inducible mRNAs by the von Hippel\u2013Lindau tumor suppressor protein requires binding to complexes containing elongins B\/C and Cul2","volume":"18","author":"Lonergan KM","year":"1998","journal-title":"Mol Cell Biol"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6602373"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33303"}],"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.33808","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33808","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:07:52Z","timestamp":1696993672000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,22]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/ajmg.a.33808"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33808","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]]}}}