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S P McManus

Publications and source records attributed to S P McManus.

7 recordsLinked to original sources
PubMed1993

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre-Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre-Chotzen syndrome. These observations support the localization of the Saethre-Chotzen gene to 7p21.2.

Acrocephalosyndactylia↗
PubMed1988

Sequential sampling in clinical cytogenetics: a quality control viewpoint.

We have observed that there is some resemblance between the problems of sampling in industrial quality control and the process of diagnosis of mixed cell populations in cytogenetics. This resemblance enabled us to draw from the methodology of the former science to solve some diagnostic problems in the latter. We considered which of the several sampling procedures available for quality control would be more efficient and more suitable in clinical cytogenetics, concluding that 'sequential sampling' combines both features. We also studied the effect that some abnormalities due to technical factors had on sample size required to reach a diagnosis with a given level of confidence. We give a set of tables for sequential sampling in diagnostic laboratories, illustrating their use in discriminating between mosaicism and pseudomosaicism in prenatal diagnosis and in the diagnosis of the fragile X syndrome. Finally, we discuss the merits of sequential sampling as shown here, comparing it with the current method used in cytogenetics to exclude chromosomal mosaicism.

Cytogenetics↗