Choroideremia in interstitial deletion of the X chromosome
- 1 January 1986
- journal article
- case report
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 7 (3), 205-210
- https://doi.org/10.3109/13816818609004140
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.Keywords
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