Summary
A boy with partial monosomy 21 is described. The child has an unbalanced 20/21 translocation with deletion of the centromeric and juxtacentromeric region of chromosome 21. Examination by C-banding technique shows that the translocation is of maternal origin. Investigation of a number of genetic marker systems shows that the HL-A, AcP, and GPT loci are not located in the deleted segment.
Zusammenfassung
Es wird ein Junge mit partieller Monosomie Nr. 21 beschrieben. Das Kind hat eine unbalancierte 20/21-Translokation mit einer Deletion der Zentromer-und Juxtazentromer-Region des Chromosomes Nr. 21. Untersuchung mit der C-Band-Technik zeigt, daß die Translokation mütterlichen Ursprungs ist. Untersuchung einer Reihe genetischer Markersysteme zeigt, daß die HL-A-, AcP- und GPT-Loci nicht in dem deletierten Segment liegen.
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References
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Holbek, S., Friedrich, U., Brostrøm, K. et al. Monosomy for the centromeric and juxtacentromeric region of chromosome 21. Hum Genet 24, 191–195 (1974). https://doi.org/10.1007/BF00283583
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DOI: https://doi.org/10.1007/BF00283583