Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).
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.
Mikhail
Fady M
FM
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Sathienkijkanchai
Achara
A
Robin
Nathaniel H
NH
Prucka
Sandra
S
Biggerstaff
Julie Sanford
JS
Komorowski
Jan
J
Andersson
Robin
R
Bruder
Carl E G
CE
Piotrowski
Arkadiusz
A
Diaz de Ståhl
Teresita
T
Dumanski
Jan P
JP
Carroll
Andrew J
AJ
D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D017384:Sequence Deletion; D014178:Translocation, Genetic; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications / Q000235:genetics*