Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism
- 1 August 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 76 (4) , 396-398
- https://doi.org/10.1007/bf00272452
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 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.Keywords
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