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

โœ Scribed by Pettenati, Mark J. ;Weaver, R. Grey ;Burton, Barbara K.

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
351 KB
Volume
34
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

A father a n d daughter with isolated aniridia were observed to have a n apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;ll)(ql3.l;pl3)1. No other clinical characteristics often associated with the deletion of llp13 were observed in this family. This finding, in association with 3 other instances of single breaks at llp13 and aniridia, supports the assignment of AN2 to llp13.

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