{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:21Z","timestamp":1761718161474},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a de novo constitutional deletion within G\u2010band region 19p13.3 in a girl with cutis aplasia of the scalp, facial anomalies, structural heart abnormalities, hypotonia, mild mental retardation and conductive hearing loss which we characterized with chromosomal microarray, fluorescence in situ hybridization (FISH), and SNP analyses. Initial microarray analysis revealed a 6\u2010BAC\u2010clone deletion covering an approximately 1.612\u2009Mb region within 19p13.3. Subsequent BAC FISH studies delineated the proximal deletion breakpoint to within BAC clone RP11\u2010125C3 and the distal deletion breakpoint to within BAC clone RP11\u2010648B14. SNP analysis showed the deletion to be of paternal origin and further refined its distal breakpoint to within a 20\u2009kb region between rs11666694 and novel SNP2 that we identified at g.2,924,845, and its proximal deletion breakpoint to within a 22\u2009kb region between rs35280644 and rs262562. Accordingly, the size of the deletion was revised to 1.89\u20131.932\u2009Mb in length. We identified many Alu, L1, and L2 repeats, as well as SINE and LINE sequences at both deletion breakpoints. We found the deletion to encompass 71 genes, two of which appear to be good candidates for the patient's observed craniofacial and cardiac anomalies: guanine nucleotide binding protein (G protein), alpha 11 (Gq class)(<jats:italic>GNA11<\/jats:italic>), and Transducin\u2010like Enhancer of Split 2 (E(sp1) homolog, Drosophila)(<jats:italic>TLE2<\/jats:italic>). \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33738","type":"journal-article","created":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T12:34:12Z","timestamp":1291206852000},"page":"3148-3153","source":"Crossref","is-referenced-by-count":14,"title":["Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies"],"prefix":"10.1002","volume":"152A","author":[{"given":"Hussam","family":"Al\u2010Kateb","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie M.","family":"Gastier\u2010Foster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Jeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn E.","family":"McCandless","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine A.","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30774"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(95)00452-1"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<276::AID-AJMG8>3.0.CO;2-N"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970101009"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.0959"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1432-1327.1998.2580339.x"},{"key":"e_1_2_7_8_1","first-page":"56","article-title":"Occurrence of 19p\u2010in an infant with multiple dysmorphic features","volume":"27","author":"Hurgoiu V","year":"1984","journal-title":"Ann Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04127.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(96)00582-5"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199701)208:1<11::AID-AJA2>3.0.CO;2-4"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0009"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.15.4304"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1986.051.01.018"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230220"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20184"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30136"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470217"},{"key":"e_1_2_7_20_1","first-page":"167","article-title":"Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric robertsonian translocations","volume":"59","author":"Sullivan BA","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02896.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130190"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360404"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"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.33738","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T04:17:53Z","timestamp":1696997873000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,24]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1002\/ajmg.a.33738"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33738","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,24]]}}}