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Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
Author(s) -
Mikhail Fady M.,
Sathienkijkanchai Achara,
Robin Nathaniel H.,
Prucka Sandra,
Biggerstaff Julie Sanford,
Komorowski Jan,
Andersson Robin,
Bruder Carl E.G.,
Piotrowski Arkadiusz,
de Ståhl Teresita Diaz,
Dumanski Jan P.,
Carroll Andrew J.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31821
Subject(s) - subtelomere , karyotype , genetics , beckwith–wiedemann syndrome , chromosomal region , phenotype , fluorescence in situ hybridization , biology , gene duplication , chromosome 4 , chromosome , gene , gene expression , dna methylation
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.