Choroideremia in interstitial deletion of the X chromosome.
An earlier reported family with a deletion of the proximal long arm of the X chromosome was reinvestigated with special attention to the presence of choroideremia. Two females were identified as carriers of choroideremia while a tapeto-retinal dystrophy was ascertained in a mentally retarded boy. RFLP analysis revealed that the interstitial deletion covered the locus DXYS1 and not DXS17. Chromosome studies indicated a deletion within the Xq21 area.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002829:Choroid; D002872:Chromosome Deletion; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014603:Uveal Diseases / Q000235:genetics*; D014960:X Chromosome