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  • 1
    Electronic Resource
    Electronic Resource
    Clinical signs of mosaicism (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 690-690 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050376
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 253-255 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050594
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    Paper (German National Licenses)
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  • 3
    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
  • 4
    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
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    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Trisomy 8 mosaicism (1976)
    Springer
    European journal of pediatrics 123 (1976), S. 293-300 
    Details
    ISSN: 1432-1076
    Keywords: Trisomy 8 ; Clinical cytogenetics ; Mosaicism in various tissues ; Disappearance of trisomic cell line
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations from the fibroblast cultures between 1962 and 1973, but has disappeared from the lymphocyte culture. The clinical picture of this case is compared with the leading clinical signs and symptoms of the 25 cases with confirmed trisomy 8 so far published. A scheme is proposed in order to keep in mind the clinical picture suggesting trisomy 8.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444650
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Clinical signs of mosaicism (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 690-690 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02079086
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    Reihenuntersuchungen der gonosomalen Chromosomenaberrationen bei männlichen Geisteskranken (1976)
    Springer
    European archives of psychiatry and clinical neuroscience 221 (1976), S. 273-282 
    Details
    ISSN: 1433-8491
    Keywords: Sex Chromosome Aberrations ; Male Psychiatric Patients ; Klinefelter Syndrome ; YY Syndrome ; Mental Subnormality ; Psychopathy ; Schizophrenia ; Gonosomale Chromosomenaberrationen ; Männliche psychiatrische Patienten ; Klinefelter-Syndrom ; YY-Syndrom ; Mentale Subnormalität ; Psychopathie ; Schizophrenie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Autoren berichten über Reihenuntersuchungen der gonosomalen Chromosomenaberrationen bei Patienten der männlichen psychiatrischen Abteilung der Neurologisch-Psychiatrischen Universitätsklinik von Pécs. Es wurden insgesamt 310 Patienten untersucht. Das X-Chromatin wurde auf Wangenschleimhautausstrichen mit Thionin-Färbung, das Y-Chromatin auf peripheren Blutausstrichen nach Quinacrin-Färbung fluoreszenzoptisch nachgewiesen. Zwei Klinefelter und ein YY-Patient wurden diagnostiziert. Bei den Klinefelter-Patienten war eine mentale Subnormalität bzw. eine psychopathische Persönlichkeitsstörung nachweisbar, der YY-Syndrom-Patient war ein paranoider Schizophrener. Die Frequenz des Klinefelter-Syndroms ist 0, 64%, die des YY-Syndroms 0, 32 %. Die mentalen Beziehungen der gonosomalen Aberrationen wurden ausführlich erörtert.
    Notes: Summary The authors report of sex chromosome aberration screenings among the patients of the male psychiatric department, University Medical School, Pécs. 310 patients were investigated. The X-chromatin was detected in buccal smears with thionin-staining and the Y-chromatin in peripheric blood smears with quinacrin-staining by the help of fluorescentoptical technique. Two Klinefelter-patients and one YY-patient were diagnostized. The Klinefelter-patients were psychopaths and mentally subnormal, the YY-patient was a paranoid schizophrenic. The incidence of Klinefelter syndrome is 0. 64%, that of the YY syndrome is 0. 32%. Mental relations of sex chromosome aberrations are discussed in detail.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00418485
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    Paper (German National Licenses)
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