Literature DB >> 2817003

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

M J Pettenati1, R G Weaver, B K Burton.   

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.

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Mesh：

Year:  1989        PMID： 2817003     DOI： 10.1002/ajmg.1320340220

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

Review 1.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

2.  FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

Authors:  J A Crolla; I Cross; N Atkey; M Wright; C A Oley
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

Review 3.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

4.  Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.

Authors:  Y Fukushima; J Hoovers; M Mannens; K Wakui; H Ohashi; T Ohno; Y Ueoka; N Niikawa
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

5.  Gillespie syndrome: An atypical form and review of the literature.

Authors:  O Nabih; H Hamdani; L ELMaaloum; B Allali; A ELkettani
Journal:  Ann Med Surg (Lond)       Date:  2022-01-08
  5 in total

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