PubMed:2817003 JSON TXT

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13.

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sentences 8 (8) PubmedHPO 2 (2) pubmed-enju-pas 0 (0) performance-test 0 (0) PubCasesCollection 0 (0) PubCasesHPO 3 (3) UBERON-AE 0 (0) PubCasesORDO 2 (2) NCBIDiseaseCorpus 3 (3) NCBI-Disease-Train 3 (3) NCBI-Disease-Corpus-All 3 (3) NCBI-Disease-Corpus-2stage-All 3 (3) NCBI-Disease-Corpus-rezarta-All 3 (3) NCBI-Disease-Corpus-4oGuideline-All 3 (3) NCBI-Disease-Corpus-Simple-All 3 (3)

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PubMed:2817003 JSONTXT

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PubMed:2817003 JSON TXT