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  • 1
    Electronic Resource
    Electronic Resource
    A new genetic disorder: Autosomal-dominant multiple benign ring-shaped skin creases (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 301-303 
    Details
    ISSN: 1432-1076
    Keywords: Congenital ring constriction ; Aberrant tissue bands ; Amniotic band syndrome ; Disruption complex ; Autosomal-dominant multiple benign deep ring-shaped skin creases ; Neuroblastoma ; Cleft palate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe two families with autosomal-dominant transmission of benign ring-shaped skin creases: a father and his son with cleft palate and localized neuroblastoma in one family and a father and his two daughters-one with median cleft palate-in the second family, who showed circular skin creases on both arms and fingers, which almost disappeared in later life. Multiple benign deep ring-shaped skin alterations in a newborn of a third family are suggestive for a new dominant mutation. Our new observations should not be confused with amniotic ring constrictions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442501
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Twenty-three cases of acute lymphoblastic leukemia with translocation t(4;11)(q21;q23): the implication of additional chromosomal aberrations (1995)
    Springer
    Annals of hematology 70 (1995), S. 195-201 
    Details
    ISSN: 1432-0584
    Keywords: Key words Acute lymphoblastic leukemia ; Cytogenetics ; Translocation t(4;11) ; Secondary chromosome aberrations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The translocation t(4;11)(q21;q23) is one of the most common specific chromosomal aberrations in acute lymphoblastic leukemia (ALL), occurring in 2% of childhood and in 5–6% of adult cases. Especially in adults, the t(4;11) is associated with a poor prognosis. In order to determine the significance of clonal chromosome aberrations that occur in addition to t(4;11), we studied the karyotypes and clinical courses of 23 patients with acute lymphoblastic leukemia and a translocation t(4;11)(q21;q23). Additional clonal chromosome aberrations were found in ten patients. An isochromosome i(7)(q10) and a trisomy 6 were observed most frequently as secondary anomalies. Clonal evolution was detected in four of six patients analyzed at diagnosis as well as at relapse. With treatment carried out according to modern risk-adapted therapy protocols, no difference in outcome was observed between patients with clonal chromosome aberrations in addition to t(4;11) at diagnosis and those without.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01700375
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Twenty-three cases of acute lymphoblastic leukemia with translocation t(4;11)(q21;q23): the implication of additional chromosomal aberrations (1995)
    Springer
    Annals of hematology 70 (1995), S. 195-201 
    Details
    ISSN: 1432-0584
    Keywords: Acute lymphoblastic leukemia ; Cytogenetics ; Translocation t(4;11) ; Secondary chromosome aberrations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The translocation t(4;11)(q21;q23) is one of the most common specific chromosomal aberrations in acute lymphoblastic leukemia (ALL), occurring in 2% of childhood and in 5–6% of adult cases. Especially in adults, the t(4;11) is associated with a poor prognosis. In order to determine the significance of clonal chromosome aberrations that occur in addition to t(4;11), we studied the karyotypes and clinical courses of 23 patients with acute lymphoblastic leukemia and a translocation t(4;11)(q21;q23). Additional clonal chromosome aberrations were found in ten patients. An isochromosome i(7)(q10) and a trisomy 6 were observed most frequently as secondary anomalies. Clonal evolution was detected in four of six patients analyzed at diagnosis as well as at relapse. With treatment carried out according to modern risk-adapted therapy protocols, no difference in outcome was observed between patients with clonal chromosome aberrations in addition to t(4;11) at diagnosis and those without.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01700375
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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