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Article

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

American journal of medical genetics. Part A - 1 Aug 2007

Mikhail Fady M, Sathienkijkanchai Achara, Robin Nathaniel H, Prucka Sandra, Biggerstaff Julie Sanford, Komorowski Jan, Andersson Robin, Bruder Carl E G, Piotrowski Arkadiusz, Diaz de Ståhl Teresita, Dumanski Jan P, Carroll Andrew J

Abstract excerpt

We report on an 8-month-old 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-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay,...

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Identifiers

PMID: 17603794
DOI: 10.1002/ajmg.a.31821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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