Document Detail

Complete sex reversal in a WAGR syndrome patient.
MedLine Citation:
PMID:  17935232     Owner:  NLM     Status:  MEDLINE    
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13. WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. The 46,XY patients with WAGR syndrome are often born with genital abnormalities such as cryptorchidism or hypospadias but more rarely ambiguous genitalia. To our knowledge, complete sex reversal has never been observed in WAGR syndrome patients. Here, we report on the clinical, cytogenetic, and molecular characterization of a child with WAGR syndrome and complete sex reversal. The young girl had female external and internal genitalia with normal uterus and fallopian tubes while the ovaries were not observed. Chromosomal analysis showed a 46,XY,del(11)(p12p14.1) karyotype. A 1-Mb resolution array CGH experiment estimated the size of the interstitial deletion at approximately 10 Mb encompassing WT1 and PAX6. The entire coding regions of WT1 and SRY have been sequenced and no mutation has been identified. Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. Complete sex reversal is a feature usually present in FS and sometimes in DDS, but until now never observed in WAGR syndrome. The present report suggests that these conditions may be considered as part of the spectrum of disease due to WT1 gene alterations.
Cedric Le Caignec; Capucine Delnatte; Joris R Vermeesch; Michelle Boceno; Madeleine Joubert; Francoise Lavenant; Albert David; Jean-Marie Rival
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-31     Completed Date:  2008-01-07     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2692-5     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Service de Génétique Médicale, Centre Hospitalier Universitaire, Nantes, France.
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MeSH Terms
Chromosome Deletion
Chromosomes, Human, Pair 11
Cytogenetic Analysis
Eye Proteins / genetics
Homeodomain Proteins / genetics
Paired Box Transcription Factors / genetics
Repressor Proteins / genetics
Sex Reversal, Gonadal*
WAGR Syndrome*
WT1 Proteins / genetics
Reg. No./Substance:
0/Eye Proteins; 0/Homeodomain Proteins; 0/PAX6 protein; 0/Paired Box Transcription Factors; 0/Repressor Proteins; 0/WT1 Proteins

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