Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

M. J. Pettenati, R. G. Weaver, B. K. Burton

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)230-232
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume34
Issue number2
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Genetics(clinical)

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