{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:18Z","timestamp":1791081378576,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T00:00:00Z","timestamp":1253059200000},"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":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Distal deletion of chromosome 3p25\u2010pter (3p\u2010 syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients. Previously we reported on an association between the presence of CHD and the proximal extent of the deletion such that a CHD susceptibility gene was mapped between D3S1263 and D3S3594. In addition, we and others have suggested several candidate genes for the psychomotor retardation usually seen with constitutional 3p25 deletions. In order to further investigate genotype\u2013phenotype correlations in 3p\u2010 syndrome we analyzed 14 patients with cytogenetically detectable deletions of 3p25 (including one patient with a normal phenotype) using Affymetrix 250K SNP microarrays. Deletion size varied from \u223c6 to 12 Mb. Assuming complete penetrance, a candidate critical region for a CHD susceptibility gene was refined to \u223c200 kb and a candidate critical region for mental retardation was mapped to an \u223c1 Mb interval containing <jats:italic>SRGAP3<\/jats:italic> but other 3p neurodevelopmental genes including <jats:italic>CHL1<\/jats:italic>, <jats:italic>CNTN4<\/jats:italic>, <jats:italic>LRRN1<\/jats:italic>, and <jats:italic>ITPR1<\/jats:italic> mapped outside the candidate critical interval. We suggest that current evidence suggests that <jats:italic>SRGAP3<\/jats:italic> is the major determinant of mental retardation in distal 3p deletions. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32824","type":"journal-article","created":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T17:01:56Z","timestamp":1253120516000},"page":"2099-2105","source":"Crossref","is-referenced-by-count":71,"title":["Microarray based analysis of 3p25\u2010p26 deletions (3p\u2010 syndrome)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Salwati","family":"Shuib","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"McMullan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Rattenberry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M.","family":"Barber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatimah","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgosia","family":"Zatyka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Macdonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farida","family":"Latif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val","family":"Davison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R.","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2107"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32387"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051256"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10323"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/344396"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31487"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.842"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.162241099"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/421474"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.581"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00267.x"},{"key":"e_1_2_6_14_1","first-page":"294","article-title":"Deletion 3p25.3 in a mother and daughter with normal phenotype","volume":"71","author":"Jervis GA","year":"2002","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1201"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(00)00409-2"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm323"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.12.994"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31902"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.625"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441927"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460604"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350225"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440508"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.903"},{"key":"e_1_2_6_26_1","first-page":"401","article-title":"Follow\u2010up of an intelligent odd\u2010mannered teenager with del(3)(p26). 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