Summary
In a patient with a peculiar face and with a severe spondylar dysplasia partial trisomy of the short arm of chromosome 20 was detected. The trisomy resulted from maternal reciprocal translocation t(20p-;21p+). We believe this case to be the first example of a confirmed partial trisomy 20.
Zusammenfassung
Bei einem Patienten mit einem seltsamen Gesicht und schwerer spondylärer Dysplasie wurde eine partielle Trisomie des kurzen Armes vom Chromosom 20 entdeckt. Diese Trisomie ging auf eine reziproke Translokation t(20p-;21p+) bei der Mutter zurück. Es scheint sich um den ersten gesicherten Fall einer partiellen Trisomie 20 zu handeln.
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References
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Šubrt, I., Brychnáč, V. Trisomy for short arm of chromosome 20. Hum Genet 23, 219–222 (1974). https://doi.org/10.1007/BF00285108
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DOI: https://doi.org/10.1007/BF00285108