Summary
Association patterns of acrocentric chromosomes in 2100 metaphases from sample populations of 30 chromosomally normal individuals, 20 mongols and 20 parents of mongol children have been studied. In this study the data are concerned with the overall numbers of acrocentric chromosomes present in associations and not with the numbers of associations or with the ways in which they may be arranged. The individual pairs of acrocentric chromosomes were identified by Leishman staining following trypsin digestion.
Acrocentric chromosomes showed a random participation in associations both in normal and in mongol populations, where the additional 21 chromosome significantly alters expected frequencies. In the parents of mongols populations, however, significant deviations from the model of random participation in associations were documented.
Keywords
Internal Medicine Trypsin Metabolic Disease Sample Population Normal IndividualZusammenfassung
Satellitenassoziationsmuster akrozentrischer Chromosomen wurden in 2100 Metaphasen aus Stichproben von 30 chromosomal normalen Individuen, 20 Fällen mit Down-Syndrom und 20 Eltern mongoloider Kinder untersucht. In dieser Studie wird die Gesamtzahl akrozentrischer Chromosomen, die an Assoziationen beteiligt sind, untersucht; nicht dagegen die Zahl der Assoziationen oder die genaue Art, in der sie vorkommen. Die einzelnen Paare assoziierter Chromosomen wurden durch Leishman-Färbung mit nachfolgender Trypsinisierung identifiziert.
Sowohl bei Normalen als auch bei Patienten mit Down-Syndrom waren die akrozentrischen Chromosomen zufällig an den Assoziationen beteiligt; dabei sind die veränderten Erwartungswerte beim Down-Syndrom berücksichtigt. Bei den Eltern der Patienten dagegen fanden sich signifikante Abweichungen von der zufälligen Beteiligung der Chromosomen.
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