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  • 1985-1989  (3)
  • 1980-1984
  • 1987  (3)
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  • 1985-1989  (3)
  • 1980-1984
Year
  • 1
    Electronic Resource
    Electronic Resource
    Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan (1987)
    Springer
    Human genetics 〈Berlin〉 76 (1987), S. 344-347 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The fragile X [fra(X)] syndrome was screened on 190 Japanese institutionalized females with moderate to severe mental retardation. Two inmates with severe mental retardation (IQ 20) had the fra(X) chromosome in 26% and 15% of the cells examined, indicating that the prevalence of the fra(X) syndrome was about 1% in all female inmates and was about 3.27% in severely mentally retarded females with known causes. However, no female with fra(X) syndrome was found in 35 moderately retarded females. Both had brothers with the fra(X) syndrome and the prevalence was 10% in females with a family history of mental retardation. In addition, the replication study of the fra(X) chromosome in the patients supported the proposal that an excess of the early replicated fra(X) chromosome is related to the mental capacity in heterozygous females. Therefore, the fra(X) syndrome should not be ignored even in severely mentally retarded females with a family history, though the heterozygotes are commonly normal to subnormal in their mental development. in addition, the replication study of the fra(X) chromosome may help to estimate mental development in the carrier children.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272442
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A fragile X female with Down syndrome (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 92-94 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Clinical and cytogenetic aspects of a female infant with trisomy 21 and the fragile X [fra (X)] chromosome are reported. Most of the facial characteristics of the patient are those observed in Down syndrome, but some features such as long face with prominent forehead and lower jaw, and large ears are related to the fra (X) syndrome. The origin of an additional chromosome 21 may be ascribed to maternal first meiotic nondisjunction in our case. It has been suspected that female carriers of the fra (X) chromosome may be predisposed to meiotic nondisjunctional events. However, there is probably no relationship between the two chromosomal abnormalities in our case because of the maternal age at the delivery.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284722
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Routine determination of light elements by charged-particle activation analysis (1987)
    Springer
    Journal of radioanalytical and nuclear chemistry 112 (1987), S. 415-423 
    Details
    ISSN: 1588-2780
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Energy, Environment Protection, Nuclear Power Engineering
    Notes: Abstract Bombardment conditions, chemical separation, and counting method were examined for routine determination of carbon, nitrogen, and oxygen in various matrices by charged-particle activation analysis with respect to reliability, reproducibility, simplicity, and rapidity. A system was then set up for trustworthy measurement of these elements.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02132374
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    Paper (German National Licenses)
    Fulltext
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