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. 1988 Dec;31(4):767-73.
doi: 10.1002/ajmg.1320310406.

Metacarpophalangeal pattern profile analysis in fragile X syndrome

M G Butler  1 , M Fletcher, D D Gale, F J Meaney, D R McLeod, J Fagan, N J Carpenter
Affiliations

Metacarpophalangeal pattern profile analysis in fragile X syndrome

M G Butler et al. Am J Med Genet. 1988 Dec.

Abstract

We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.

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Figures

Fig. 1
Fig. 1
A typical hand radiograph from a 7-year-old-malc with the fra (X) syndrome.
Fig. 2
Fig. 2
Mean MCPP for 18 individuals with fra (X) syndrome. (O) indicates the bones that were selected in the discriminant analysis.
Fig. 3
Fig. 3
Histogram depicting normal and fra (X) syndrome classification by discriminant analysis. D = 0.28−2.19 (X2) + 1.25 (X4) + 1.20 (X5).
See this image and copyright information in PMC

References

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