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  • 1
    Electronic Resource
    Electronic Resource
    FAMILY COUNSELING IN DOWNS SYNDROME (1970)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 171 (1970), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1970.tb39374.x
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  • 2
    Electronic Resource
    Electronic Resource
    Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 8 (1994), S. 243-250 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The critical importance of dosage compensation is underscored by a novel human syndrome (“XYXq syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1194-243
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  • 3
    Electronic Resource
    Electronic Resource
    Increased frequency of heterozygotes for α 1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21 (1976)
    [s.l.] : Nature Publishing Group
    Nature 260 (1976), S. 320-321 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] ?1?? is produced by the liver and found in blood, semen, cervical mucus and other body fluids. It is a readily detectable, polymorphic, codominantly inherited inhibitor of cellular proteases. The structural gene for ?1AT is not on chromosome 21 ; however, its exact location is not known at ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/260320a0
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  • 4
    Electronic Resource
    Electronic Resource
    Regulation of rRNA gene expression in a human familial 14p+ marker chromosome (1978)
    Springer
    Human genetics 〈Berlin〉 43 (1978), S. 289-297 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosome studies were carried out on normal individuals from three generations of one family with a 14p+ chromosome. The short arm of the 14p+ chromosome stained well using Giemsa but poorly using quinacrine or trypsin-Giemsa methods; in each case there was an unstained secondary constriction near the distal end of the short arm. Two Ag bands of average size were present on the 14p+ short arm, indicating that there were two active nucleolus organizer regions; the Ag band near the distal end of the short arm was slightly larger than that near the centromere. Each of the two Ag bands was seen associated with the short arm of one or more of the other acrocentric chromosomes, with a combined frequency of association no greater than that of other chromosomes with an Ag band of the same size. In one individual, hybridization in situ with radioactive 18S and 28S ribosomal RNA showed six times as many autoradiographic silver grains over the short arm of the 14p+ chromosome as over that of any other acrocentric chromosome. The results obtained using in situ labeling indicated that the 14p+ chromosome had a large number of rRNA genes compared with the other acrocentric chromosomes, whereas the results obtained using Ag-staining and association frequency indicated that the 14p+ chromosome had no greater nucleolus organizer activity than did the other acrocentrics. The difference in these findings suggests that not all the rRNA genes on the 14p+ chromosome were active.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278836
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  • 5
    Electronic Resource
    Electronic Resource
    H-Y antigen in X,i(Xq) gonadal dysgenesis: Evidence of X-linked genes in testicular differentiation (1980)
    Springer
    Human genetics 〈Berlin〉 56 (1980), S. 183-187 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three years ago, we detected H-Y antigen in the white blood cells of a phenotypic female with several of the stigmata of Turner's syndrome, and the mosaic karyotype: 45,X/46,X,i(Xq). We surmised at the time that the isochromosome, i(Xq), may have contained occult Y-chromosome-derived material. We have now confirmed the presence of H-Y in this patient and we have obtained evidence for the presence of H-Y in four of five other similar patients, all of whom are notable for carrying at least a single cell line with the karyotype 46,X,i(Xq). Although we cannot categorically exclude the presence of Y-chromosomal genes in the cells of these patients, there is no cytogenetic evidence of structural rearrangement involving the Y in any of the cases. Expression of H-Y antigen in association with i(Xq) thus implies that H-Y structural genes are X-situated, or alternatively that they are autosomal and X-regulated. It would follow that the H-Y+ cellular phenotype per se is not a valid marker for the Y-chromosome, and that H-Y genes that have been mapped to the pericentric region of the Y may be regulatory.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295692
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  • 6
    Electronic Resource
    Electronic Resource
    Evidence for methylation of inactive human rRNA genes in amplified regions (1981)
    Springer
    Human genetics 〈Berlin〉 56 (1981), S. 315-320 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In two unrelated families, the short arm of a 14p+ marker chromosome contains an increased number of copies of the 18S+28S rRNA genes without a comparable increase in the transcriptional activity, as shown by silver staining. The DNA in this region is highly enriched in 5-methylcytosine, as shown by specific antibody binding. In contrast, the owl monkey and cat have a single major nucleolus organizer region (NOR) per haploid genome; these NORs contain about the same number of rRNA genes as the 14p+ chromosome but are not methylated. These findings suggest that most of the amplified human rRNA genes on the 14p+ chromosomes have been inactivated by a process involving DNA methylation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274686
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  • 7
    Electronic Resource
    Electronic Resource
    Human X chromosomes: Synchrony of DNA replication in diploid and triploid fibroblasts with multiple active or inactive X chromosomes (1980)
    Springer
    Somatic cell and molecular genetics 6 (1980), S. 187-198 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have analyzed patterns of DNA replication in X chromosomes from diploid cultured human fibroblasts and from three triploid 69,XXY fibroblast strains, using BrdU-33258 Hoechst—Giemsa techniques. Both X chromosomes in each of these Barr body-negative triploid strains were early-replicating. The results of gene dosage studies using (1) a histochemical stain to measure X-linked glucose-6-phosphate dehydrogenase (G6PD) activity in single cells and (2) cellulose acetate electrophoresis of G6PD activity in cell extracts also indicated that both Xs in these strains were genetically active. When we compared the synchrony of X chromosome DNA replication kinetics both between cells and within cells containing multiple inactive Xs, a marked variability and asynchrony was observed for latereplicating X chromosomes. In a culture of 47,XXX fibroblasts administered an 8-h terminal pulse of dT after growth in BrdU-containing medium, asynchrony was detected between the two late-replicating Xs in ∼70% of cells examined. No such asynchrony was observed between the two earlyreplicating Xs in similarly cultured 69, XXY cells; in the triploid strains, the two Xs were distinguished by asynchronous replication in only ∼15% of cells. The striking variability in late X chromosome replication kinetics appears, then, to be a property unique to inactive Xs and is not inherent to all X chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01538795
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  • 8
    Electronic Resource
    Electronic Resource
    Regional location of α1-antichymotrypsin and α1-antitrypsin genes on human chromosome 14 (1986)
    Springer
    Somatic cell and molecular genetics 12 (1986), S. 209-214 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human protease inhibitor genes α1 antitrypsin (α1-PI) and α1-antichymotrypsin (α1-ACT) are acute-phase proteins which are induced in response to inflammation. These inhibitors function to limit the activity of serine proteases in vivo. α1-PI acts as an inhibitor of neutrophil elastase to protect the elastin fibers of the lung. Genetic deficiencies of α1-PI result in development of chronic pulmonary emphysema. The physiologic role of α1-ACT has not been clearly defined, but it also appears to function in the maintenance of protease-protease inhibitor equilibrium in the lung. Nucleic acid and protein sequence homologies detected between α1-PI and α1 t-ACT suggested an evolutionary relationship. Gene mapping experiments were performed to determine if these protease inhibitor genes reside at the same chromosomal locus in man. In situ hybridization data demonstrate that both α1-PI and α1-ACT map to the same region, q31–q32.3, on chromosome 14.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01560668
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  • 9
    Electronic Resource
    Electronic Resource
    A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism (1987)
    Springer
    Journal of autism and developmental disorders 17 (1987), S. 457-468 
    Details
    ISSN: 1573-3432
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Notes: Abstract Fragile X syndrome is a recently identified form of mental retardation that is associated with a chromosomal abnormality and inherited in an X-linked manner. Previous studies have suggested that distinctive speech and language characteristics are associated with the syndrome. Twelve adult male residents of an institution for the retarded (aged 23 to 51 years) were compared on a series of speech and language measures to 12 adult males with nonspecific forms of MR who were residents of the same institution and were matched on age and IQ. A second contrast group consisted of similarly matched autistic men. Results revealed that there were no significant differences among the groups' performance, with the exception of increased rates of echolalia in the autistic group. A nonsignificant trend toward poorer performance on expressive measures on the part of the fragile X group was noted. The implications of these findings for further research on the syndrome are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01486963
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