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  • Electronic Resource  (3)
  • FISH-technique  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Clinical manifestations of trisomy 4p syndrome (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 425-431 
    Details
    ISSN: 1432-1076
    Keywords: Trisomy 4p syndrome ; Chromosome 4 ; FISH-technique
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a socalled 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel, Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. Conclusion The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02029349
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Telomeric repeat [TTAGGG]n sequences of human chromosomes are conserved in chimpanzee (Pan troglodytes) (1993)
    Springer
    Molecular genetics and genomics 237 (1993), S. 460-462 
    Details
    ISSN: 1617-4623
    Keywords: Telomeres ; heterochromatin ; chromosome ; human ; chimpanzee ; FISH-technique
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Using a series of genetic parameters, attempts have been made for more than two decades to establish the close kinship of human (Homo sapiens) with chimpanzee (Pan troglodytes). Molecular and cytogenetic data presently suggest that the two species are closely related. The recent isolation of a human telomeric probe (P5097-B.5) has prompted us to cross hybridize it to chimpanzee chromosomes in order to explore convergence and/or divergence of the telomeric repeat sequences (TTAGGG)n. On hybridization, the human probe bound to both ends (telomeres) of chimpanzee chromosomes, suggesting a concerted evolution of tandemly repeated short simple sequences (TTAGGG)n. Even the terminal heterochromatin of chimpanzee chromosomes was found to be endowed with telomeric repeats, suggesting that evolution of heterochromatin and capping with tandemly repeated short sequences are highly complex phenomena.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279451
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8 (1996)
    Springer
    Journal of human genetics 41 (1996), S. 215-219 
    Details
    ISSN: 1435-232X
    Keywords: trisomy 8 ; trisomy X ; ovarian failure ; Turner syndrome ; FISH-technique ; interphase cytogenetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report on a 46 year old female with a new chromosomal finding [46,XX/47,XXX/47,XX,+8] who was referred for ovarian failure. The clinical presentation was highly unusual and the patient does not exhibit the characteristic phenotype of trisomy 8 syndrome. Interphase cytogenetics using FISH-technique revealed discrepancies with a different population of cells when compared with its metaphase index. Therefore, it is advised that patients with mosaic karyotypes should be evaluated by analyzing metaphase as well as interphase nuclei labeled with chromosome specific molecular tags, especially in the situations where the incidence of a mosaic cell line is very low. Nevertheless, in a cost-conscious environment, we must exercise caution prior to making universal recommendations concerning the usefulness of medical devices which are increasing at a logarithmic rate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01892630
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    Paper (German National Licenses)
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