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  • 1
    Electronic Resource
    Electronic Resource
    Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 11 (1995), S. 459-461 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] As the initial step toward defining the molecular basis for OS, we conducted linkage analysis in 10 families segregating the OS phenotype. We tested 145 well-characterized, highly polymorphic microsatellite markers which span the entire genome at 25–35 cM intervals on the four largest OS ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1295-459
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  • 2
    Electronic Resource
    Electronic Resource
    Amylase heterogeneity (1966)
    Springer
    Human genetics 〈Berlin〉 1 (1966), S. 579-586 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Serum amylase activity comprises two isoenzymes which differ in their electrophoretic mobility. The first is produced by the salivary gland, the second by the pancreas. Urine amylase is filtered from the plasma by the glomerules and the number of its isoenzymes with their respective activities correspond to those in the serum. In 11 out of 120 cases of children a duplication of the serum pancreatic fraction was detected. The same trait was also found in one of the parents of each of these eleven children, suggesting that an autosomal codominant mode of inheritance may be involved. In diabetic children an increased serum amylase activity in the first (i.e. the salivary) fraction was detected, in five other children out of the group of 120, this first salivary amylase fraction was missing completely.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281046
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  • 3
    Electronic Resource
    Electronic Resource
    Amylase heterogeneity variants in man (1966)
    Springer
    Human genetics 〈Berlin〉 3 (1966), S. 41-45 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The existence of six amylase heterogeneity variants in serum and urine has been discovered in a group of 111 families with twins, and the frequence of each variant was determined. It had been shown that each of these amylase heterogeneity variants is inherited codominantly, and the mode of inheritance is demonstrated schematically. These amylase heterogeneity variants may be used as an aid to twin zygosity determination and also in paternity problems.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273017
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  • 4
    Electronic Resource
    Electronic Resource
    A case of translocation D-, t(lp+) (1969)
    Springer
    Human genetics 〈Berlin〉 7 (1969), S. 5-8 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A severely retarded, dystrophic, hypotonic boy with joint hyperflexibility, jaw anomalies, cerebral hypoplasia and failure to thrive is reported. He died at the age of 8 months. Clinical and biochemical investigation revealed predominantly normal values. An unusual type of palmar crease was found. Chromosomal studies showed a translocation, probably a mosaic with normal cells. The parents are chromosomally normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278687
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  • 5
    Electronic Resource
    Electronic Resource
    The critical region on the human Xq (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 455-461 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Adult female carriers of balanced X; autosome translocations (118 cases) and of balanced X inversions (31 cases) have been collected from the literature. Forty-five of the 118 translocation carriers in whom the break was in the critical region (Xq13–q22, Xq22–q26, separated by a narrow region within Xq22) showed gonadal dysgenesis. Seven of the 31 inversion carriers in whom the break was in the same region also had gonadal dysgenesis, whereas the remaining 24 were normal in this respect. The critical region consists mainly of Q-bright material, and is the fifth brightest segment in the human genome. The region contains relatively few genes. It is possible that meiotic crossing-over, rarely, if ever, takes place in it. The critical region may therefore consist of two “supergenes” whose integrity must be maintained to allow normal ovarian development. The effect exerted by this region differs from other known position effects, in that it is independent of the break-point within the region and of the chromosome bands to which the broken ends are attached. One possible mechanism causing this effect might be a change in the replication order of the chromosome bands, which, in turn, might affect their function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194216
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  • 6
    Electronic Resource
    Electronic Resource
    The Amish: Perceptions of genetic disorders and services (1995)
    Springer
    Journal of genetic counseling 4 (1995), S. 27-47 
    Details
    ISSN: 1573-3599
    Keywords: Amish ; inbreeding ; cross-cultural genetic counseling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Psychology
    Notes: Abstract Previous studies of the closed Amish population have proven to be valuable in the field of genetics, however they have not explored the Amish parents' opinions and attitudes concerning genetic conditions and services. This exploration is necessary in order to provide culturally sensitive health care to a population at an increased risk for certain genetic conditions. The purpose of the present study was to examine the Amish population's general knowledge of genetic disorders, services, and the terminology used in describing inherited conditions, as well as their attitudes toward medical care and ethical and reproductive issues. Information was obtained from 17 Amish families, 12 who had an incidence of a genetic condition and five who had one or more children with other special health care needs, during personal interviews conducted in their homes in Lancaster, Pennsylvania. Results of the interviews showed that the birth of an affected child did not deter subsequent reproduction, that the majority of the parents were never offered genetic counseling or prenatal testing, and that the parents are interested in understanding the cause of their children's problems and recurrence risks.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01423846
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