Choroideremia in interstitial deletion of the X chromosome

T. Rosenberg National Eye clinic for Visually Impaired, Copenhagen, Denmark

M. Schwartz Section of Clinical Genetics, Department of Pediatrics and Department of Obstetrics and Gynecology, Rigshospitalet, Copenhagen, Denmark

E. Niebuhr Institute of Medical Genetics, University of Copenhagen, Denmark

H.-M. Yang Institute of Medical Genetics, University of Copenhagen, Denmark

H. Sardemann Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark

O. Andersen Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark

C. Lundsteen Section of Clinical Genetics, Department of Pediatrics and Department of Obstetrics and Gynecology, Rigshospitalet, Copenhagen, Denmark

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Abstract

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.

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Choroideremia in interstitial deletion of the X chromosome

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Choroideremia in interstitial deletion of the X chromosome

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