title: Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).
abstract: 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.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Fady M
authors.initials: FM
authors.lastname: Mikhail
authors.forename: Achara
authors.initials: A
authors.lastname: Sathienkijkanchai
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
authors.forename: Sandra
authors.initials: S
authors.lastname: Prucka
authors.forename: Julie Sanford
authors.initials: JS
authors.lastname: Biggerstaff
authors.forename: Jan
authors.initials: J
authors.lastname: Komorowski
authors.forename: Robin
authors.initials: R
authors.lastname: Andersson
authors.forename: Carl E G
authors.initials: CE
authors.lastname: Bruder
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Piotrowski
authors.forename: Teresita
authors.initials: T
authors.lastname: Diaz de Ståhl
authors.forename: Jan P
authors.initials: JP
authors.lastname: Dumanski
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Carroll
mesh_terms: 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*