{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T05:49:25Z","timestamp":1772603365551,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Distal 1q duplication and distal 9p deletion are rare chromosomal aberrations associated with developmental delay and mild to moderate congenital malformations. There are inconsistent findings regarding the critical region for trigonocephaly within 9p deletion syndrome. A recent analysis of the largest 9p\u2010 cohort to date, however, delineated two critical regions and emphasized the need for replication. We report on a trigonocephalic child with a <jats:italic>de novo<\/jats:italic> 46.09 megabases (Mb) terminal duplication of 1q and a 5.31\u2009Mb terminal deletion in 9p, described as 46,XX,der(9)t(1;9)(q32.1;p24.1). The clinical course was predominantly influenced by the 1q duplication. Trigonocephaly, however, was consistent with 9p deletion syndrome. Our findings support the delineation of [GRCh38] 9:3,418,241\u20135,341,746 as a critical region for trigonocephaly within 9p deletion syndrome. We propose that haploinsufficiency of <jats:italic>RFX3<\/jats:italic>, along with complex gene interactions, contributes to the mechanism for disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.64066","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T12:27:20Z","timestamp":1743164840000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Distal 1q Duplication and Distal 9p Deletion: A Follow\u2010Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome"],"prefix":"10.1002","volume":"197","author":[{"given":"Jonas","family":"Helbig","sequence":"first","affiliation":[{"name":"Department of Human Genetics Labor Dr. Fenner &amp; Kollegen  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kunz","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Labor Dr. Fenner &amp; Kollegen  Hamburg Germany"},{"name":"Department of Human Genetics Philipps University of Marburg  Marburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca","family":"Mannhardt","sequence":"additional","affiliation":[{"name":"Social Pediatric Center Werner Otto Institute  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Gandaputra","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine L\u00fcneburg Clinic  L\u00fcneburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Kling","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Labor Dr. Fenner &amp; Kollegen  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.4238\/2014.June.9.16"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.17662"},{"issue":"1","key":"e_1_2_9_4_1","first-page":"17","article-title":"Deletion of the Short Arm of Chromosome No.9 (46,9p\u2010): A New Deletion Syndrome","volume":"16","author":"Alfi O.","year":"1973","journal-title":"Annales de G\u00e9n\u00e9tique"},{"issue":"2","key":"e_1_2_9_5_1","first-page":"97","article-title":"De Novo Dir Dup (1)(q3200\u20144200) in an Adult. 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