Browsing by Subject "Correlation studies"

Now showing 1 - 6 of 6
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    An Anthropometric Study of 38 Individuals With Prader-Labhart- Willi Syndrome
    (Wiley, 1987-02) Butler, Merlin G.; Meaney, F. John; Opitz, John M.; Reynolds, James F.; Department of Medical and Molecular Genetics, School of Medicine
    Weight, height, sitting height, and 24 other anthropometric variables (5 body circumferences, skinfolds at 7 sites, 4 head dimensions, and 8 hand and foot measurements) were obtained on 38 Prader-Labhart-Willi syndrome (PLWS) individuals (21 with apparent chromosome 15 deletions and 17 nondeletion cases) with an age range of 2 weeks to 38½ years. More than half of these individuals were measured on more than one occasion. The measurements confirmed the presence of short stature, small hands and feet, obesity, and narrow bi-frontal diameter in PLWS. No differences were found for the anthropometric measurements between the 2 chromosome subgroups. Inverse correlations were produced with linear measurements (eg, height, hand and foot lengths) and age, which indicated a deceleration of linear growth relative to normal individuals with increasing age.
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    Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: An Applied Anthropometric Method
    (Wiley, 1986-06) Butler, Merlin G.; Meaney, F. John; Kaler, Stephen G.; Medical and Molecular Genetics, School of Medicine
    The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones. The metacarpophalangeal pattern profile (MCPP) developed by Poznanski, Garn, and others (Poznanski et al. Birth Defects VIII (5): 125–131, 1972) is a graphic representation of the relative lengthening and shortening of the 19 tubular bones of the hand useful for diagnosis, comparison of dissimilar patients, and gene carrier detection. The profile hand bone measurements are derived from posteroanterior hand radiographs and are standardized for age and sex. Specific profiles have been developed for several syndromes. Therefore, MCPP analysis has developed from a method of describing changes in the hand to a technique useful in assigning a diagnosis to a specific syndrome and evaluation of skeletal development. The current status of MCPP analysis in clinical genetics, particularly with the Prader-Labhart-Willi and Sotos syndromes, is discussed.
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    Metacarpophalangeal pattern profile analysis in diastrophic dysplasia
    (Wiley, 1987-11) Butler, Merlin G.; Gale, David D.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool.
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    Metacarpophalangeal pattern profile analysis in fragile X syndrome
    (Wiley, 1988-12) Butler, M. G; Fletcher, M.; Gale, D. D.; Meaney, F. J.; McLeod, D. R.; Fagan, J.; Carpenter, N. J.; Opitz, J. M.; Reynolds, J. F.; Department of Medical and Molecular Genetics, School of Medicine
    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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    Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases
    (Wiley, 1985-07) Butler, Merlin G.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader-Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining 18 individuals. The mean hand profile of 38 individuals was essentially flat while the profiles for the two groups based on chromosome findings were separate in the metacarpal area. Correlation studies confirmed the homogeneity of the deletion group relative to Prader-Willi syndrome individuals with normal chromosomes. Discriminant analysis of Prader-Willi syndrome versus control individuals produced a function of three MCPP variables plus age which may be applied as another diagnostic tool.
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    Metacarpophalangeal pattern profile analysis in Robinow syndrome
    (Wiley, 1987-05) Butler, Merlin G.; Gale, David D.; Meaney, F. John; Wadlington, William B.; Robinow, Meinhard; Medical and Molecular Genetics, School of Medicine
    We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.