Document Detail

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.
MedLine Citation:
PMID:  6301974     Owner:  NLM     Status:  MEDLINE    
A family with dominantly inherited aniridia in three generations is presented. All three patients had an apparently balanced chromosome translocation t(4;11)(q22;p13). The patients were otherwise clinically normal and without signs of Wilms' tumor; their erythrocyte catalase activities were within the normal range. We suggest that in this family aniridia is caused either by a submicroscopic deletion at the translocation breakpoint 11p13 or by a position effect on the same chromosome segment. Furthermore, the loci for aniridia and Wilms' tumor susceptibility are separate. It follows that the WAGR complex is caused by a mutation of more than one gene located at 11p13. The theoretical implications of a presumably defective allele causing a mendelian dominant phenotype are discussed.
K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  63     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1983  
Date Detail:
Created Date:  1983-06-17     Completed Date:  1983-06-17     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  158-61     Citation Subset:  IM    
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MeSH Terms
Chromosome Banding
Infant, Newborn
Iris / abnormalities*
Kidney Neoplasms / genetics*
Translocation, Genetic*
Wilms Tumor / genetics*

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