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  • 1
    Electronic Resource
    Electronic Resource
    Terminales Nierenversagen bei Aniridie-Wilms-Syndrom (1986)
    Springer
    Journal of molecular medicine 64 (1986), S. 800-803 
    Details
    ISSN: 1432-1440
    Keywords: Deletion on chromosome No. 11 ; Wilms-Tumor Aniridia ; Renal deficiency after a long period ; Nephrosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Missing iris combined with debility and incidence of Wilms' tumor seem to be a complex syndrome which appears in 1:100,000 people. It is caused by an interstitial deletion on the short arm of chromosome no. 11. We refer to a patient who developed end-stage renal failure caused by a focal-segmental nephrosclerosis. He underwent renal transplantation because chronic hemodialysis was impossible due to his lack of compliance. The deletion of chromosome 11 could be recognized by chromosomal analysis after transplantation. An aniridia-Wilms' tumor association (AWTA) with following focal segmental nephrosclerosis could be diagnosed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01732191
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15 (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 229-231 
    Details
    ISSN: 1432-1076
    Keywords: Chromosomal aberration ; Ring chromosome 15 ; Dysplasias ; Malformations ; Ventricular septal defect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre-and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442457
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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