{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:20:27Z","timestamp":1787163627045,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"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":[[2016,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3\u2009Mb region that extends from LCR22\u2010A until LCR22\u2010D, while the recurrent recombination between any of the LCR22\u2010D to H causes the 22q11.2 distal deletion syndrome. Here, we describe three patients with a de novo atypical \u223c1.4\u2009Mb 22q11.2 deletion that involves LCR22\u2010C to a region beyond D (LCR22\u2010C to D\/E), encompassing the distal portion of the typical deleted region and the proximal portion of the distal deletion. We also review six previous published patients with the same rearrangement and compare their features with those found in patients with overlapping deletions. Patients with LCR22\u2010C to D\/E deletion present a recognizable phenotype characterized by facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay. Genotype\u2013phenotype analysis of the patients indicates that\n                      <jats:italic>CRKL<\/jats:italic>\n                      and\n                      <jats:italic>MAPK1<\/jats:italic>\n                      genes play an important role as causative factors for the main clinical features of the syndrome. In particular,\n                      <jats:italic>CRKL<\/jats:italic>\n                      gene seems to be involved in the occurrence of conotruncal cardiac anomalies, mainly tetralogy of Fallot. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37614","type":"journal-article","created":{"date-parts":[[2016,3,19]],"date-time":"2016-03-19T03:11:56Z","timestamp":1458357116000},"page":"1485-1494","source":"Crossref","is-referenced-by-count":12,"title":["Delineation of a recognizable phenotype for the recurrent LCR22\u2010C to D\/E atypical 22q11.2 deletion"],"prefix":"10.1002","volume":"170","author":[{"given":"Amaya","family":"Bengoa\u2010Alonso","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Complejo Hospitalario de Navarra, IdiSNA Navarra Institute for Health Research Pamplona 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