How to cite this article: Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CEG, Piotrowski A, de Ståhl TD, Dumanski JP, Carroll AJ. 2007. Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet Part A 143A:1760–1766.
Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)†
Article first published online: 29 JUN 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 15, pages 1760–1766, 1 August 2007
How to Cite
Mikhail, F. M., Sathienkijkanchai, A., Robin, N. H., Prucka, S., Biggerstaff, J. S., Komorowski, J., Andersson, R., Bruder, C. E.G., Piotrowski, A., de Ståhl, T. D., Dumanski, J. P. and Carroll, A. J. (2007), Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am. J. Med. Genet., 143A: 1760–1766. doi: 10.1002/ajmg.a.31821
- Issue published online: 24 JUL 2007
- Article first published online: 29 JUN 2007
- Manuscript Accepted: 13 MAR 2007
- Manuscript Received: 18 OCT 2006
- Wolf–Hirschhorn syndrome (WHS);
- Beckwith–Wiedemann syndrome (BWS);
- fluorescence in situ hybridization (FISH);
- array CGH;
- unbalanced translocation;
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, atrial septal defect (ASD), and left hydronephrosis. High-resolution 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. © 2007 Wiley-Liss, Inc.