Summary
Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after MspI digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.
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Créau-Goldberg, N., Gegonne, A., Delabar, J. et al. Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet 76, 396–398 (1987). https://doi.org/10.1007/BF00272452
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DOI: https://doi.org/10.1007/BF00272452