{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:55:31Z","timestamp":1697619331424},"reference-count":24,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T00:00:00Z","timestamp":1183075200000},"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":[[2007,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an 8\u2010month\u2010old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well\u2010known clinical phenotypes of Wolf\u2013Hirschhorn syndrome (WHS) and Beckwith\u2013Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High\u2010resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31821","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T20:18:40Z","timestamp":1183148320000},"page":"1760-1766","source":"Crossref","is-referenced-by-count":5,"title":["Overlapping phenotype of Wolf\u2013Hirschhorn and Beckwith\u2013Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)"],"prefix":"10.1002","volume":"143A","author":[{"given":"Fady M.","family":"Mikhail","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achara","family":"Sathienkijkanchai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathaniel 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