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Identifikation chromosomaler Polymorphismen und einiger Aberrationen nach Anwendung neuer cytogenetischer Methoden

Identification of chromosomal polymorphisms and some aberrations identified by new cytogenetical methods

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Abstract

The development of different cytogenetical methods allows more exact diagnosis of chromosomal aberrations. In this publication we demonstrate some results attained with the C banding and Giemsa-11 technics. With the first method it is possible to stain the regions near the centromers of all chromosomes, particularly the secondary constrictions of the proximal segments of the long arms of A1, C9 and E16 chromosomes and the long arms of the Y chromosome. This method is especially useful in the detection of chromosomal markers and polymorphisms. Polymorphisms are structural features, generally of an heriditary nature, with no phenotypical effects on the carrier.

The Giemsa-11 technic reveals the heterochromatic segments of the proximal regions of the long arm of C9 chromosomes with particular clarity.

In this publication we demonstrate examples of normal chromosomal variants and anomalies.

Normal variants: doubling of heterochromatic material of the long secondary constrictions of chromosomes A1, C9 and E16, usually referred to as markers or polymorphisms; polymorphism of one D-group chromosome.

Chromosomal anomalies: a supernumerary marker chromsome with satellites at both ends and a clear tendency to association of the satellites; differentiation of 21/22 translocation.

Zusammenfassung

Die Entwicklung differenzierter cytogenetischer Untersuchungstechniken erlaubt eine weitgehend exakte Diagnostik chromosomaler Aberrationen. In dieser Arbeit demonstrieren wir einige Ergebnisse nach Anwendung der C-Banden- und Giemsa-11-Technik. Mit der erstgenannten Methode lassen sich die zentromernahen Regionen aller Chromosomen und besonders die sekundären Constrictionen auf den proximalen Abschnitten der langen Arme der A1-, C9- und E16-Chromosomen sowie die langen Arme des Y-Chromosoms anfärben. Insbesondere leistet diese Methode Hilfe bei der Erkennung chromosomaler Marker bzw. Polymorphismen. Unter Polymorphismen verstehen wir strukturelle Besonderheiten, meist hereditärer Natur, die ohne phänotypischen Effekt für den Träger sind.

Mit der Giemsa-11-Technik stellt sich vorwiegend der heterochromatische Abschnitt auf dem proximalen Anteil des langen Armes der C9-Chromosomen dar.

Folgende chromosomale Normvarianten und Anomalien werden in dieser Arbeit beispielhaft demonstriert:

Normvarianten: eine Verdoppelung heterochromatischen Materials der großen Sekundärconstrictionen auf den A1-, C9- und E16-Chromosomen, die auch als Marker bzw. Polymorphismen bezeichnet werden; ein Polymorphismus eines D-Chromosoms.

Chromosomale Anomalien: ein überzähliges Marker-Chromosom mit Satelliten an beiden Armen des Chromosoms und deutlicher Satellitenassoziation; Differenzierung einer 21/22-Translokation.

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Authors and Affiliations

  1. Universitäts-Kinderklinik Kiel, Kiel, Deutschland

    J. Kunze & M. Tolksdorf

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  1. J. Kunze
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  2. M. Tolksdorf
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Die cytogenetischen Untersuchungen wurden mit Hilfe der Deutschen Forschungsgemeinschaft durchgeführt.

Die Ergebnisse wurden auf der 70. Tagung der Gesellschaft für Kinderheilkunde, Nürnberg, 16.–19. 9. 1973, vorgetragen.

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Kunze, J., Tolksdorf, M. Identifikation chromosomaler Polymorphismen und einiger Aberrationen nach Anwendung neuer cytogenetischer Methoden. Z. Kinder-Heilk. 117, 29–46 (1974). https://doi.org/10.1007/BF00439022

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