Overlapping phenotype of wolf-hirschhorn and beckwith-wiedemann syndromes in a girl with der(4)t(4; 1 1)(pter;pter)
2007 (English)In: American Journal of Medical Genetics, Part A, ISSN 1552-4825, Vol. 143, no 15, 1760-1766 p.Article in journal (Refereed) Published
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 hydro-nephrosis. 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.
Place, publisher, year, edition, pages
2007. Vol. 143, no 15, 1760-1766 p.
Wolf-Hirschhorn syndrome (WHS), Beckwith-Wiedemann syndrome (BWS), fluorescence in situ hybridization (FISH), array CGH, unbalanced translocation, 4p, 11p
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-13613DOI: 10.1002/ajmg.a.31821ISI: 000249144900013PubMedID: 17603794OAI: oai:DiVA.org:uu-13613DiVA: diva2:41383