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Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

✍ Scribed by K. O. J. Simola; S. Knuutila; I. Kaitila; Anna Pirkola; Paula Pohja

Publisher
Springer
Year
1983
Tongue
English
Weight
697 KB
Volume
63
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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