title: Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.
abstract: 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.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: I J
authors.initials: IJ
authors.lastname: Lorda-Sanchez
authors.forename: A J
authors.initials: AJ
authors.lastname: Ibañez
authors.forename: R J
authors.initials: RJ
authors.lastname: Sanz
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: M E
authors.initials: ME
authors.lastname: Anabitarte
authors.forename: M E
authors.initials: ME
authors.lastname: Querejeta
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: A
authors.initials: A
authors.lastname: Gimenez
authors.forename: F
authors.initials: F
authors.lastname: Infantes
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: B
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D000328:Adult; D015794:Choroideremia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D015342:DNA Probes; D003638:Deafness / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D015342:DNA Probes