Hum Genet. 1988 Jul;79(3):280-2.

Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.

Puissant H, Azoulay M, Serre JL, Piet LL, Junien C.

Source

Unité de Génétique, CHU d'Angers, France.

Abstract

Most patients with the complex association aniridia - predisposition to Wilms' tumor (WAGR syndrome) present with a de novo constitutional deletion of band 11p13. We report a patient with WAGR syndrome and a reciprocal translocation between chromosomes 5 and 11 t(5;11) (q11;p13). High resolution banding cytogenetic analysis and molecular characterization using 11p13 DNA markers showed a tiny deletion encompassing the gene for CAT but sparing the gene for FSHB. This suggests that syndromes associated with apparently balanced translocations may be due to undetectable loss of material at the breakpoint(s) rather than to breakage in the gene itself.

PMID:: 2841227; [PubMed - indexed for MEDLINE]

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The T-ALL specific t(11;14)(p13;q11) translocation breakpoint cluster region is located near to the Wilms' tumour predisposition locus. [Oncogene. 1988]
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Cited by 6 PubMed Central articles

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. [Mol Cytogenet. 2008]
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC. Mol Cytogenet. 2008 Jul 21; 1:15. Epub 2008 Jul 21.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. [J Med Genet. 2007]
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, et al. J Med Genet. 2007 Dec; 44(12):750-62. Epub 2007 Aug 31.
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. [J Med Genet. 2003]
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.
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