| Autor: |
I J, Lorda-Sanchez, A J, Ibañez, R J, Sanz, M J, Trujillo, M E, Anabitarte, M E, Querejeta, M, Rodriguez de Alba, A, Gimenez, F, Infantes, C, Ramos, B, Garcia-Sandoval, C, Ayuso |
| Rok vydání: |
2000 |
| Předmět: |
|
| Zdroj: |
Ophthalmic genetics. 21(3) |
| ISSN: |
1381-6810 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
