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Case Reports
. 1987 Aug;76(4):396-8.
doi: 10.1007/BF00272452.

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

N Créau-Goldberg, A Gegonne, J Delabar, C Cochet, M O Cabanis, D Stehelin, C Turleau, J de Grouchy
Case Reports

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

N Créau-Goldberg et al. Hum Genet. 1987 Aug.

Abstract

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 Msp I 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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References

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