{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:53:55Z","timestamp":1762458835439},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,20]],"date-time":"2010-08-20T00:00:00Z","timestamp":1282262400000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9\u2010year\u2010old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup\u2010shaped ears, short neck, and a normal karyotype. Using high\u2010density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2\u2009Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3\u2009Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high\u2010density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G\u2010banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2\u2010q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup\u2010shaped ears, short neck and short stature, high\u2010density array should be included in initial work up. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33580","type":"journal-article","created":{"date-parts":[[2010,9,4]],"date-time":"2010-09-04T04:09:52Z","timestamp":1283573392000},"page":"2365-2371","source":"Crossref","is-referenced-by-count":10,"title":["Identification of a submicroscopic 3.2\u2009Mb chromosomal 16q12.2\u201013 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high\u2010density oligonucleotide array\u2010a recognizable syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Ching\u2010Fen","family":"Chang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling\u2010Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung\u2010Hsing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuu\u2010Jen","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsai\u2010Chuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jer\u2010Yuarn","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan\u2010Tsong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Chun\u2010Hui","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01094.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9396"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(97)00165-2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.828"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.08.004"},{"key":"e_1_2_9_7_1","first-page":"39","article-title":"Multiple critical smallest region of overlap in monosomy 16q syndrome?","volume":"5","author":"Doco\u2010Fenzy M","year":"1994","journal-title":"Genet Couns"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273010"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00402162"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278910"},{"key":"e_1_2_9_11_1","first-page":"124","article-title":"Interstitial 16q deletion with typical dysmorphic syndrome","volume":"24","author":"Fryns JP","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900604"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286649"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.4.1493-1504.2004"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00316.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03249.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20599"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32204"}],"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.33580","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:01:32Z","timestamp":1697608892000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,20]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33580"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33580","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,20]]}}}