Early manifestations of the Martin-Bell syndrome based on a series of both sexes from infancy
1988
A small series of male and female fra(X) positive children is reviewed retrospectively clinically and photographically to identify a profile of age-related manifestations and behavioral traits of predictive value.
This method involves a crossmatch with the cases and trait lists in the POSSUM Data Base. The plan then is to test the sensitivity and specificity in a prospective series. If this proves reliable, a request for a fra(X) cytogenetic analysis could be limited to the clinically screened matching cases, rather than the present costly exercise of testing all undiagnosed intellectually handicapped children.
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