Choroideremia in interstitial deletion of the X chromosome

T. Rosenberg; M. Schwartz; E. Niebuhr; H. M. Yang; H. Sardemann; O. Andersen; C. Lundsteen

doi:10.3109/13816818609004140

Choroideremia in interstitial deletion of the X chromosome

T. Rosenberg
, M. Schwartz
, E. Niebuhr
, H. M. Yang
, H. Sardemann
, O. Andersen
, C. Lundsteen

Health Science Center

National Eye Clinic for Visually Impaired

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

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.

Original language	English
Pages (from-to)	205-210
Number of pages	6
Journal	Ophthalmic Paediatrics and Genetics
Volume	7
Issue number	3
DOIs	https://doi.org/10.3109/13816818609004140
State	Published - 1986

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title = "Choroideremia in interstitial deletion of the X chromosome",

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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AU - Rosenberg, T.

AU - Schwartz, M.

AU - Niebuhr, E.

AU - Yang, H. M.

AU - Sardemann, H.

AU - Andersen, O.

AU - Lundsteen, C.

PY - 1986

Y1 - 1986

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AB - 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.

UR - https://www.scopus.com/pages/publications/0023024199

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DO - 10.3109/13816818609004140

M3 - 文章

AN - SCOPUS:0023024199

SN - 0167-6784

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SP - 205

EP - 210

JO - Ophthalmic Paediatrics and Genetics

JF - Ophthalmic Paediatrics and Genetics

IS - 3

ER -

Choroideremia in interstitial deletion of the X chromosome

Abstract

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