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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 55 (1977), S. 141-144 
    ISSN: 1432-1440
    Keywords: Oculo-cerebro-renales Syndrom (Lowe) ; Katarakt ; Fetus ; Oculo-cerebro-renal syndrome (Lowe) ; Cataract ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.
    Notes: Zusammenfassung Bei einer Schwangeren, die bereits einen Jungen mit Lowe-Syndrom hat, wurde eine Amniocentese durchgeführt. Die Schwangerschaft wurde unterbrochen, nachdem sich in den kultivierten Zellen der Amnionflüssigkeit ein männlicher Karyotyp zeigte und damit eine Wahrscheinlichkeit von 50% für die Geburt eines weiteren Kindes mit dieser X-chromosomal rezessiv erblichen Erkrankung bestand. Der männliche Fet bot die für das Lowe-Syndrom charakteristischen Linsentrübungen. Es bestand ein Lenticonus posterior mit Defekt der hinteren Linsenkapsel; die bisher bekannte kleine, discoide Linse des Lowe-Syndroms entsteht somit möglicherweise durch Verlust von Linsenmaterial bei defekter hinterer Linsenkapsel. Die Aminosäurenkonzentrationen im Fruchtwasser waren mit Ausnahme von deutlichen Erhöhungen von Lysin und Prolin normal.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 127 (1978), S. 197-204 
    ISSN: 1432-1076
    Keywords: Prenatal diagnosis ; Thalassemia ; Selective hemolysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The prenatal diagnosis of the severe, hereditary anemias may be impossible when a placental blood sample which contains a high percentage of maternal rather than fetal cells is obtained. An incubation system described by Boyer et al. [3] with minor modifications, was applied to mixtures of blood from prematures and adults in order to increase the proportion of premature cells. After 40 min incubation, 95% or more of adult red cells were destroyed, whereas 30–60% of premature red cells were recovered, as determined by several independent methods. In a pregnancy at risk for β-thalassemia, a placental blood sample which was purely fetal was obtained. Complete lack of in vitro β-globin synthesis showed the fetus to have homozygous β-thalassemia. When fetal blood was mixed with maternal blood in a ratio of 1∶15, β-globin synthesis in the mixture was comparable to that of normal fetuses. In contrast, when the cell mixture was subjected to selective hemolysis prior to separation of globins, β-globin synthesis again was not detectable. Thus, using selective hemolysis, the correct diagnosis could be established from a blood sample containing only about 6% of fetal cells.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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