Early manifestations of the Martin‐Bell syndrome based on a series of both sexes from infancy
- 1 May 1988
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 61-71
- https://doi.org/10.1002/ajmg.1320300104
Abstract
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.Keywords
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