{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:26Z","timestamp":1761718046028},"reference-count":28,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T00:00:00Z","timestamp":1194566400000},"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":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an overgrowth condition with tumor proclivity linked to a genetic imbalance of a complex imprinted region in 11p15.5. A female child with features fitting in with the BWS diagnostic framework and an apparent loss of imprinting (LOI) of the <jats:italic>IGF2<\/jats:italic> gene in 11p15.5 was also reported to have a de novo chromosome 18q segmental deletion (Patient 1), thus pointing at the location of a possible trans\u2010activating regulator element for maintenance of <jats:italic>IGF2<\/jats:italic> imprinting and providing one of the few examples of locus heterogeneity of BWS. A second child with de novo 18q23 deletion and features of macroglossia, <jats:italic>n\u00e6vus flammeus<\/jats:italic>, bilateral inguinal hernia and transient neonatal hypoglycemia, thus also fitting in with the BWS diagnostic framework, is here fully reported (Patient 2). In this child, an analysis of the <jats:italic>BWS1<\/jats:italic> locus precluded any paternal isodisomy and showed a normal imprinting pattern (mono\u2010allelic expression of <jats:italic>IGF2<\/jats:italic> and normal <jats:italic>H19<\/jats:italic> and <jats:italic>CDKN1OT1\/LIT1<\/jats:italic> methylation index). In Patients 1 and 2, deletions were shown to overlap, defining a minimal region of haplo\u2010insufficiency of 3.8\u20135.6 Mb in 18q23. We conclude that this region provides a candidate location for an original macroglossia condition with strong overlap with BWS, but without obvious upstream functional relationship with the <jats:italic>BWS1<\/jats:italic> locus in 11p15.5. Because this minimal region of haplo\u2010insufficiency falls into a common region of deletion in 18q\u2013 syndrome, we inferred that this macroglossia condition would follow a recessive pattern of inheritance. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31768","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T21:46:53Z","timestamp":1194644813000},"page":"2796-2803","source":"Crossref","is-referenced-by-count":8,"title":["Beckwith\u2013Wiedemann\u2010like macroglossia and 18q23 haploinsufficiency"],"prefix":"10.1002","volume":"143A","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Lirussi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Jonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Gaston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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