与家族性单纯性无虹膜相关的易位t(5;11)(q13.1;p13)
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.
作者信息
Pettenati M J, Weaver R G, Burton B K
机构信息
Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27103.
出版信息
Am J Med Genet. 1989 Oct;34(2):230-2. doi: 10.1002/ajmg.1320340220.
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.
观察到一名患有单纯性无虹膜的父亲和女儿有一个明显平衡的相互易位，涉及5号和11号染色体[t(5;11)(q13.1;p13)]。在这个家族中未观察到其他通常与11p13缺失相关的临床特征。这一发现，与其他3例11p13单断点和无虹膜的病例相结合，支持将AN2定位于11p13。
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