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. RF...

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Bibliographic Details
Published in:	Ophthalmic paediatrics and genetics Vol. 7; no. 3; p. 205
Main Authors:	Rosenberg, T, Schwartz, M, Niebuhr, E, Yang, H M, Sardemann, H, Andersen, O, Lundsteen, C
Format:	Journal Article
Language:	English
Published:	Netherlands 1986
Subjects:	Abnormalities, Multiple - genetics Child Choroid Chromosome Deletion Genetic Carrier Screening Genetic Linkage Humans Male Phenotype Polymorphism, Restriction Fragment Length Sex Chromosome Aberrations - genetics Uveal Diseases - genetics X Chromosome
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Summary:	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.
ISSN:	0167-6784
DOI:	10.3109/13816818609004140