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  • 1
    Electronic Resource
    Electronic Resource
    A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 187-189 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric chromosome exhibiting the banding pattern of the short arm of chromosome no. 10 [47,XX,+10p(pter→cen)]. Her clinical features were compatible with the 10p trisomy syndrome. Hexokinase (HK-1) activity was elevated in the patient's erythrocytes, which is consistent with an assignment of HK-1 to 10pter→cen10. The absence of a gene dosage effect for inorganic pyrophosphatase (PP) in this study indicates exclusion of PP from 10pter →cen10, and therefore implies a regional assignment of cen10→10q24 for PP. Adenosine kinase (ADK) activity was within control limits, which is consistent with exclusion of ADK from 10pter→cen10.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272998
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The chromosome constitution of 1000 human spermatozoa (1983)
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 305-309 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosomal analysis of 1000 spermatozoa from 33 normal men was performed using in vitro fertilization of zonafree golden hamster eggs. The frequency of abnormal sperm complements was 8.5%: 5.2% were aneuploid and 3.3% had a structural chromosome abnormality. The frequencies of hyperhaploid (2.4%) and hypohaploid (2.7%) sperm complements were not significantly different and all chromosome groups were represented among the aneuploid complements. The majority (22/33) of structurally abnormal complements had a chromosome break. The percentages of X and Y-bearing sperm were 53.9% and 46.1%, which is significantly different from the expected one to one ratio.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274750
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The association of a lymphoreticular malignancy with an 11q deletion: A coincidence or a cancer susceptibility? (1983)
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 323-326 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A balanced paternal chromosome insertion, ins(11) p14q14q21, resulted in a female with an unbalanced karyotype, del(11)(q14q21). This imbalance presumably arose from a meiotic crossover between the breakpoint of the insertion and the breakpoints of the deletion. This child developed a malignant lymphoma of the thymus in the first year of life. The association of a lymphoma with an 11q deletion may not be a coincidence in view of the frequent involvement of 11q in cytogenetic alterations of lymphomas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274755
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    Paper (German National Licenses)
    Fulltext
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