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  • 1
    Electronic Resource
    Electronic Resource
    Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 477-482 
    Details
    ISSN: 1432-1076
    Keywords: Key words Williams-Beuren ; syndrome ; Elastin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1–30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Two-thirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen. Conclusion This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02029360
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 477-482 
    Details
    ISSN: 1432-1076
    Keywords: Williams-Beuren syndrome ; Elastin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1–30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Twothirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen. Conclusion This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02029360
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Pathways to Risk Among Inner-City African-American Adolescent Females: The Influence of Gang Membership (1999)
    Springer
    American journal of community psychology 27 (1999), S. 383-404 
    Details
    ISSN: 1573-2770
    Keywords: gang membership ; risk behaviors ; African American ; adolescent females
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract Differential rates of participation in three categories of risk behaviors (i.e., sexual activity, substance use, violence) were explored, comparing gang members to nonmembers, within a sample of 1,143 inner-city African American adolescent females. The relationship between gang membership and risk behavior also was examined, by exploring the association between a variety of microsystemic influences (e.g., gang, family, school) and participation in risk behaviors. MANOVA analyses indicated that gang members, relative to nonmembers, reported higher rates of participation in each of the three categories of risk behaviors. Stepwise linear regression analyses indicated that gang membership was the variable with the most consistent predictive ability, across all categories of risk, as it entered early in all equations and remained in all three final models after controlling for other statistically significant contextual variables. Findings suggest that intervention efforts aimed at reducing adolescent females' participation in sexual activity, substance use, and violence should consider the influence of gang membership on the participation in these behaviors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022234027028
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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