X-Linked Mental Retardation and the Fragile-X Syndrome

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Abstract
A recent issue of a human genetics journal (American Journal of Medical Genetics) devotes nearly 100 pages to nine different presentations on X- linked mental retardation. This expression of tremendous interest stems primarily from a cytogenetic finding that appears to define a new cause of mental retardation (MR), which is generally referred to as the fragile-X syndrome. The accumulated information concerning this syndrome indicates that it is one of the most frequent of the diagnosable forms of MR. For this reason, every physician, and especially every pediatrician, should become thoroughly acquainted with the fragile-X syndrome. Inasmuch as it is unusual for new syndromes of significant frequency to be discovered, a brief account of how this was achieved is in order.

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