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Genetic Counseling in Chromosomal Aberrations in Neurology and Ophthalmology
Published online by Cambridge University Press: 01 August 2014
Abstract
On the basis of their genetic-counseling experience with 4000 propositi, the authors start by recalling in a first part the fundamental mechanisms of the appearance and heritability of chromosomal aberrations.
In a second part, they summarize the correlations between clinical cases and chromosomal abnormalities presently described in the literature. Only the syndromes in which a neurologic and/or an ophthalmologic history exists are reported.
In a third part, modalities of genetic counseling, with a summing-up of general risks for chromosomal rearrangements and of their principal circumstances of diagnosis, are related.
Genealogic and cytogenetic studies necessary for counseling are briefly recorded.
- Type
- 2. Genetic Counseling and the Detection of Carriers in Neurology
- Information
- Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 83 - 102
- Copyright
- Copyright © The International Society for Twin Studies 1974