PMID- 17603794
OWN - NLM
STAT- MEDLINE
DCOM- 20080116
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 15
DP  - 2007 Aug 1
TI  - Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a 
      girl with der(4)t(4;11)(pter;pter).
PG  - 1760-6
AB  - 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.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Mikhail, Fady M
AU  - Mikhail FM
AD  - Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
FAU - Sathienkijkanchai, Achara
AU  - Sathienkijkanchai A
FAU - Robin, Nathaniel H
AU  - Robin NH
FAU - Prucka, Sandra
AU  - Prucka S
FAU - Biggerstaff, Julie Sanford
AU  - Biggerstaff JS
FAU - Komorowski, Jan
AU  - Komorowski J
FAU - Andersson, Robin
AU  - Andersson R
FAU - Bruder, Carl E G
AU  - Bruder CE
FAU - Piotrowski, Arkadiusz
AU  - Piotrowski A
FAU - Diaz de Stahl, Teresita
AU  - Diaz de Stahl T
FAU - Dumanski, Jan P
AU  - Dumanski JP
FAU - Carroll, Andrew J
AU  - Carroll AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Beckwith-Wiedemann Syndrome/complications/*genetics
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 4
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Phenotype
MH  - Sequence Deletion
MH  - *Translocation, Genetic
MH  - Wolf-Hirschhorn Syndrome/complications/*genetics
EDAT- 2007/07/03 09:00
MHDA- 2008/01/17 09:00
CRDT- 2007/07/03 09:00
PHST- 2007/07/03 09:00 [pubmed]
PHST- 2008/01/17 09:00 [medline]
PHST- 2007/07/03 09:00 [entrez]
AID - 10.1002/ajmg.a.31821 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Aug 1;143A(15):1760-6. doi: 10.1002/ajmg.a.31821.