{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T15:51:41Z","timestamp":1773762701279,"version":"3.50.1"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,6,25]],"date-time":"2004-06-25T00:00:00Z","timestamp":1088121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:p>We present molecular genetic investigations of a 4\u2010year\u2010old boy with craniofacial dysmorphism and developmental delay. Trivial mitral and tricuspid regurgitation without gross structural abnormality was diagnosed by echocardiography. High\u2010resolution chromosome analysis revealed an interstitial deletion, del(10)(p12.1p12.32). To characterize the deletion size and breakpoints, we performed fluorescence <jats:italic>in situ<\/jats:italic> hybridization analysis using 27 BAC clones. Our data demonstrate an approximately 5.5\u2003Mb deletion del(10)(p12.1p12.31). Surprisingly, the BAC clone RP11\u201056H7 that contains <jats:italic>NEBL<\/jats:italic>, an apparent downstream gene of the cardiogenic transcription factor <jats:italic>HAND2<\/jats:italic> previously shown to be deleted in the patients with DiGeorge 2 syndrome and 10p13 deletion, was deleted in our patient with 10p12.1\u2010p12.31 deletion. In addition, we provide clinical data and results of molecular analysis for a patient with multiple congenital anomalies including Ebstein's anomaly, kidney malformations, and 10p13\u2010p14 deletion. We also reviewed 19 patients with congenital heart defects and deletions involving 10p and propose that atrial septal defect (ASD) is a common cardiac anomaly associated with DiGeorge 2 syndrome. Based on genotype\u2013phenotype analysis of published patients and those reported herein, we propose an approximately 1.0\u2003Mb critical region between loci <jats:italic>D10S547<\/jats:italic> and <jats:italic>D10S2176<\/jats:italic> in 10p14 to be associated with ASD. Considering that septal defects are the most frequent congenital heart anomaly, we suggest that further investigations in the 10p critical region are important to identify gene(s) responsible for this common birth defect.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00290.x","type":"journal-article","created":{"date-parts":[[2004,7,14]],"date-time":"2004-07-14T14:27:21Z","timestamp":1089815241000},"page":"128-136","source":"Crossref","is-referenced-by-count":44,"title":["Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome"],"prefix":"10.1111","volume":"66","author":[{"given":"SA","family":"Yatsenko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AN","family":"Yatsenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Szigeti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WJ","family":"Craigen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SW","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JR","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,25]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(96)00374-8"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1998.531530113.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.104.1.87"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00010"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_7_8_2","first-page":"162","article-title":"DiGeorge syndrome and partial monosomy 10p: case report and review","volume":"38","author":"Schuffenhauer S","year":"1995","journal-title":"Ann Genet"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-458"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550410.x"},{"key":"e_1_2_7_11_2","first-page":"59","article-title":"The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome","volume":"10","author":"Van Esch H","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-5"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<72::AID-AJMG14>3.0.CO;2-O"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/301718"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/35019088"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.33"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200183"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<425::AID-AJMG17>3.0.CO;2-Q"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-002-0331-9"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10914"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1253\/circj.66.561"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.7009"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.807"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(03)00669-3"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00337"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<313::AID-AJMG13>3.0.CO;2-U"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050074017"},{"key":"e_1_2_7_31_2","first-page":"101","article-title":"Partial deletion 10p syndrome. 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