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Tapetoretinal Degeneration in Three Mentally Retarded Sisters with Other Disorders in the Family Tree

Published online by Cambridge University Press:  01 August 2014

J. Jancar  and
Ruth M. Walters
J. Jancar*
Affiliation:
Stoke Park Hospital, Stapleton, Bristol, Great Britain
Ruth M. Walters
Affiliation:
Stoke Park Hospital, Stapleton, Bristol, Great Britain
*
Stoke Park Hospital, Stapleton, Bristol BS16 1QU, Great Britain

Abstract

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Three sisters suffering from tapetoretinal degeneration and other eye anomalies, mental retardation, skeletal abnormalities, and unusual dermatoglyphs, are reported.

The family tree of four generations is presented which reveals the following other disorders: diabetes mellitus (2 M), rheumatoid arthritis (2 F), mental retardation (2 M), congenital heart disease (1 F). A great niece of the propositi is known to suffer from tapetoretinal degeneration, mental retardation, epilepsy, cerebellar ataxia, and deafness. One miscarriage and one infant death are also noted.

The mode of inheritance and relationship to other syndromes with tapetoretinal degeneration are briefly discussed. The chromosomal studies, relevant biochemical and other investigations, are within normal limits.

Type
5. Free Contributions: First Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 175 - 180
Copyright
Copyright © The International Society for Twin Studies 1974

References

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