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Variations in karyotypes of normal premature babies, new-born babies and infants

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Summary

4754 lymphocyte metaphases of 36 male and female premature babies, new-born babies and infants were analyzed for the occurrence of numeric and structural chromosome aberrations, of associations and visible satellites of the acrocentric chromosomes. The cell cultures were done after a micro-method according to Hirschhorn and were interrupted after 48 and 72 hrs of culturing.

Aneuploidy. 1.87% of all the cells analyzed showed an abnormal number of chromosomes. In the single individual aneuploidic nuclei occurred between 0 and 5% without there being a difference in group of age, sex or time in culture.

Structural Abnormalities. In 4.75% of the total number of mitoses analyzed, and between 1to 8% in the single individual, structural abnormalities were recorded. Gaps were found most frequently in chromosomes of group D, breaks in those of group A. The difference between age-groups,sexes, culturing time and culture series has no significance for the occurrence of structural abnormalities.

Associations of Acrocentric Chromosomes. Their occurrence depends on the individual, the age-group and the time in culture. Within one age-group with a certain culturing time, an individual is characterized by their occurrence.

Satellites. The frequency of D-satellites as well as of G-satellites is characteristic of an individual. Their occurrence with one subject remained the same for both culture periods.

Zusammenfassung

4754 Lymphocytenmetaphasen von 36 männlichen und weiblichen Frühgeborenen, Neugeborenen und Kleinkindern wurden nach dem Vorkommen von numerischen und strukturellen Aberrationen, von Assoziationen und sichtbaren Satelliten der akrozentrischen Chromosomen untersucht, wobei wir die Zellkulturen, die wir nach einer Mikromethode nach Hirschhorn durchführten, nach 48 und 72 Std Kulturzeit abbrachen.

Aneuploidie. Wir beobachteten in 1,87% sämtlicher untersuchter Zellen eine abnorme Chromosomenzahl. Bei den einzelnen Individuen kamen aneuploide Kerne zwischen 0 und 5% vor, ohne daß ein Unterschied zwischen den Altersgruppen, den Geschlechtern oder den Kulturzeiten bestand.

Strukturelle Abnormalitäten. Sie traten in 4,75% aller untersuchten Mitosen, bei den einzelnen Probanden zwischen 1 und 8% auf, wobei Gaps am häufigsten auf den Chromosomen der gruppe D, Brüche auf denen der Gruppe A gefunden wurden. Die Altersgruppen, die Geschlechter, die Präparate der verschiedenen Kulturzeiten und Serien unterschieden sich im Vorkommen von Strukturabnomalitäten nicht voneinander.

Assoziationen der akrozentrischen Chromosomen. Ihr Vorkommen ist abhängig von: Individuum, Altersgruppe, Kulturzeit. In einer Altersgruppe für eine bestimmte Kulturzeit charakterisiert ihre Häufigkeit ein Individuum.

Satelliten. Sowohl die Häufigkeit der D-Satelliten wie auch die der G-Satelliten ist für ein Individuum charakteristisch. Ihr Vorkommen bei einem Probanden war bei beiden Kulturzeiten gleich.

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  1. Basler Kinderspital, Basel, Switzerland

    Hj. Müller

  2. Genetisches Labor, Basler Kinderspital, Römergasse 8, CH-4000, Basel 5, Switzerland

    Hj. Müller

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Müller, H. Variations in karyotypes of normal premature babies, new-born babies and infants. Hum Genet 14, 33–43 (1971). https://doi.org/10.1007/BF00273029

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