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.
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