Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.
A structural cochlear abnormality has been observed by high resolution CT scanning in some families where X-linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence that the genotypic basis of deafness is the same in both patient groups. It is also likely that the perilymphatic fluid "gusher" abnormality may be common to both.
Reardon
W
W
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, U.K.
Roberts
S
S
Phelps
P D
PD
Thomas
N S
NS
Beck
L
L
Issac
R
R
Hughes
H E
HE
D002648:Child; D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging; D003638:Deafness / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014057:Tomography, X-Ray Computed; D014960:X Chromosome