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.
Lorda-Sanchez
I J
IJ
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
Ibañez
A J
AJ
Sanz
R J
RJ
Trujillo
M J
MJ
Anabitarte
M E
ME
Querejeta
M E
ME
Rodriguez de Alba
M
M
Gimenez
A
A
Infantes
F
F
Ramos
C
C
Garcia-Sandoval
B
B
Ayuso
C
C
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
D015342:DNA Probes