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Dicentric chromosome due to an unusual fusion

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Summary

The case of a very mild 18p—syndrome is reported. In a mentaly retarded girl was recovered karyotype with 45 chromosomes. The absent chromosomes G and E (18) were replaced by a submetacentric, dicentric chromosome, originated from an unusual fusion. The examination of serum immunoglobulins revealed the deficiency of IgA.

Zusammenfassung

Es wird über einen Fall von mäßigem 18p—Syndrom berichtet. Bei einem mentalretardierten Mädchen wurde ein Karyotyp mit 45 Chromosomen festgestellt. Das fällende Chromosom war mit einem submetazentrischen und gleichzeitig dizentrischen Chromosom ersetzt, das durch eine sehr ungewöhnliche Fusion entstand. Die Untersuchung der Immunglobuline hat einen deutlichen γ-A-Globulin-Mangel gezeigt.

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References

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Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medical Hygiene, Charles University, Prague

    I. Šubrt, B. Blehová & O. Táborský

  2. Department of Clinical Biochemistry, Faculty of Medical Hygiene, Charles University, Prague

    I. Šubrt, B. Blehová & O. Táborský

Authors
  1. I. Šubrt
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  2. B. Blehová
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  3. O. Táborský
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Šubrt, I., Blehová, B. & Táborský, O. Dicentric chromosome due to an unusual fusion. Hum Genet 12, 136–141 (1971). https://doi.org/10.1007/BF00291469

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  • DOI: https://doi.org/10.1007/BF00291469

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