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A child with a 21-ring chromosome, 45,XX,21-/46,XX,21r investigated with the banding technique

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Summary

Chromosomal analysis of lymphocytes and fibroblasts in a slightly retarded 7-month-old female infant with some minor malformations showed a mosaicism 45,XX,G-/46,XX,Gr. The ring chromosome was identified as No. 21 by banding technique.

Zusammenfassung

Chromosomenuntersuchungen an Lymphocyten und Fibroblasten bei einem 7 Monate alten Mädchen mit leichter statomotorischer Entwicklungsverzögerung und degenerativen Stigmata zeigten ein Mosaik 45,XX,G-/46,XX,Gr. Durch die Bandentechnik mit Trypsinbehandlung konnte das Ringchromosom als Nr.21 identifiziert werden.

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Authors and Affiliations

  1. Kinderklinik der Freien Universität Berlin, Berlin, Germany

    K. Shibata, C. Waldenmaier & W. Hirsch

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  1. K. Shibata
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  2. C. Waldenmaier
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  3. W. Hirsch
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Shibata, K., Waldenmaier, C. & Hirsch, W. A child with a 21-ring chromosome, 45,XX,21-/46,XX,21r investigated with the banding technique. Hum Genet 18, 315–319 (1973). https://doi.org/10.1007/BF00291128

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  • DOI: https://doi.org/10.1007/BF00291128

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