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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

We present clinical and cytogenetic studies of a female patient affected with choroideremia, mild sensorineural deafness, and primary amenorrhea showing a balanced translocation between chromosomes X and 4. The breakpoint was precisely defined applying FISH techniques: 46,X,t(X;4)(q21.2;p16.3).ish t(X;4)(D4S96+, D4F26+; wcpX+). The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. The presence of X-linked disorders in this balanced carrier of X-autosomal translocations (XAT) can be explained either by the disruption of the structural coding or regulatory sequences of the gene(s) or by the submicroscopic deletion of this region leading to a contiguous gene deletion syndrome. The primary ovarian failure ( POF) found in the present case has been already observed in XAT when the breakpoint is within a previously defined critical region (Xq13-26). A position effect is postulated as a possible explanation.[1]

References

  1. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Lorda-Sanchez, I.J., Ibañez, A.J., Sanz, R.J., Trujillo, M.J., Anabitarte, M.E., Querejeta, M.E., Rodriguez de Alba, M., Gimenez, A., Infantes, F., Ramos, C., Garcia-Sandoval, B., Ayuso, C. Ophthalmic Genet. (2000) [Pubmed]
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