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  • 1
    Electronic Resource
    Electronic Resource
    Invasive dysgerminoma in a girl with 45,X/46,X; mar mosaicism (1983)
    Springer
    Archives of gynecology and obstetrics 233 (1983), S. 141-147 
    Details
    ISSN: 1432-0711
    Keywords: Chromosomal mosaicism ; Turner's syndrome ; Gonadal dysgenesis ; Dysgerminoma ; Gonadoblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report a 16-year-old girl with features of Turner's syndrome from whom an invasive dysgerminoma was removed. Cytotoxic drugs were given for the next 12 months. Mosaicism of two karyotypes (45,X/46,X; mar) was found in various tissues. The literature is reviewed with special regard to cytogenetic findings and prognosis of malignant growth and differentiation of dysgenetic gonads.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02114790
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Neue Dokumentation zur Abgrenzung eines Syndroms der Deletion des kurzen Arms eines Chromosoms Nr. 4 (1968)
    Springer
    European journal of pediatrics 102 (1968), S. 49-61 
    Details
    ISSN: 1432-1076
    Keywords: Chromosomenaberrationen ; Multiple Mißbildungen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über zwei neue Beobachtungen einer autoradiographisch gesicherten Deletion der kurzen Arme eines Chromosoms B4. Das dadurch verursachte Mißbildungssyndrom zeichnet sich durch eine kraniofaciale Dysmorphie mit Mikrocephalie, Hypertelorismus, kräftiger, nach unten gebogener Nase und Mikroretrogenie aus. Dysrhaphische Störungen sind als Gaumenspalte, Iriscolobom und Hirnmißbildungen (interventriculäre Cyste; cavum septi pellucidi) ausgeprägt. Bei Knaben besteht eine Hypospadie. Die Papillarleistenmuster sind in großen Bezirken aufgelöst.
    Notes: Summary Two new cases of a deletion of the short arm of one chromosome B 4 are reported. This aberration causes a syndrome of congenital malformations which is characterized by cranio-facial dysmorphia (microcephaly, hypertelorism, beaked nose, micrognathia), midline fusion defects (cleft palate, coloboma of the iris), cerebral abnormality (interventricular cyst; cavum septi pellucidi), hypospadias in males and decomposition of dermatoglyphics in large areas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00471590
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms? (1971)
    Springer
    European journal of pediatrics 111 (1971), S. 118-138 
    Details
    ISSN: 1432-1076
    Keywords: Multiple Malformations ; Cleft Lip ; Polydactyly ; Syndactyly ; Genital Anomalies ; Anomalies of the Extremities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über 4 perinatal verstorbene Neugeborene mit medianer Oberlippenspalte, exzessiver Polysyndaktylie, verkürzten Rippen und Gliedmaßen, Genitalmißbildungen, Anomalien der Epiglottis und Mißbildungen innerer Organe. In der Literaturkasuistik fanden wir 13 gleichartige und 19 ähnliche Fälle, die wahrscheinlich einem eigenen, bisher unerkannten Syndrom zugehörig sind. Dieses Syndrom kann von 12 morphologisch mehr oder minder ähnlichen Syndromen abgegrenzt werden. Die Ätiologie ist unbekannt.
    Notes: Abstract 4 newborn babies dying shortly after birth exhibited severe malformations including median cleft lip, excessive polysyndactyly, short ribs and limbs, genital abnormalities, and anomalies of epiglottis and visceral organs. 13 nearly identical cases were found in the literature. In addition, 19 similar cases have been described. They all probably represent a separate, previously unrecognized syndrome. This peculiar association of congenital malformations can be clearly delineated from 12 syndromes, which share more or less similar features. The etiology is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446428
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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