| Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. | |
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MedLine Citation:
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PMID: 6301974 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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K O Simola; S Knuutila; I Kaitila; A Pirkola; P Pohja |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Human genetics Volume: 63 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1983 |
Date Detail:
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Created Date: 1983-06-17 Completed Date: 1983-06-17 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 158-61 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Banding Female Humans Infant, Newborn Iris / abnormalities* Karyotyping Kidney Neoplasms / genetics* Male Pedigree Translocation, Genetic* Wilms Tumor / genetics* |
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