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  • 1
    Electronic Resource
    Electronic Resource
    Human chromosome variation with two Robertsonian translocations (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 178-180 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A woman was found to have 42 autosomes due to engagement of both chromosomes 14 in Robertsonian rearrangements, one with a chromosome 21 and the other with a chromosome 22: t(14q21q) and t(14q22q). The two translocations appear monocentric and by silver staining have no rRNA activity. The t(14q21q) translocation is familial and was ascertained through a nephew with Down syndrome, while the origin of the t(14q22q) translocation was not established. In addition to these two translocations, the woman had XX/XXX sex chromosome mosaicism. She has had two recognized pregnancies, each resulting in the birth of a child with one of the two translocations. Both children are phenotypically normal, as is their mother, the first normal liveborn individual identified with two Robertsonian translocations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293293
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Chromosomes 17 and 22 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 337-342 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We describe the cytogenetic findings in a recurrent neurofibrosarcoma in a patient with nonfamilial von Recklinghausen disease. The composite karyotype was: 40,Y,-X,+dic r(X;20)(:Xp22.2→q26::20p13→ q13:), -1, +der(1)t(1;3) (p21;p24),-3,-4,-5,+der(5) t(5;?)(q31;?),-9,-9,+der(9)t(3;9)(q21 or q13;p24 or p22), -11,+der(11)t(11;?)(q22.2;?), -17,+der(17)t(17; 22;?)(q21;q13.1;?), -20, -21, -22, -22, +der(22)t(17; 22;?)(q21;q13.1;?),t(2;10)(q37;q22). The derivative chromosomes were demonstrated at the 500 band level. Chromosomes 17 and 22 were shown to be involved in an unbalanced three-way translocation: t(17;22;?)(q21;q13.1;?). This event was confirmed by in situ hybridization, using two probes mapped to chromosome 17. Hill H is a probe derived from the novel oncogene TRE and is located at 17q12–22. The second probe, derived from the granulocyte colony-stimulating factor (G-CSF), is located at 17q11–q21. The rearrangement between chromosomes 17 and 22 showed breakpoints similar or close to the gene loci for neurofibromatosis 1 (NF-1) and NF-2. Based on our observations we recommend that genetic studies on NF-1 tumors include both gene sites (NF-1 and NF-2) rather than focus on one gene locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206758
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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