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  • 1
    Digitale Medien
    Digitale Medien
    Trisomy 16q21»qter (1980)
    Springer
    Human genetics 〈Berlin〉 53 (1980), S. 165-167 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A case of trisomy 16q secondary to a paternal 16/18 translocation is described. A comparison of this case with the few other cases of trisomy 16q described in the literature indicates that trisomy for the long arm of chromosome 16 results in a severely affected phenotype and early death. Conversely, patient with trisomy 16p do not have gross abnormalities. We postulate that the prenatal lethality of full trisomy 16 is mainly due to the trisomy for the long arm.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00273489
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 157-167 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23→p25; this had previously been localised to segment p23→pter.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286899
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    An analysis of Xq deletions (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 375-381 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/ autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion revealed that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050056
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    An analysis of Xq deletions (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 375-381 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion revealed that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xg24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02185777
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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