Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.
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.
D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014178:Translocation, Genetic
D005819:Genetic Markers; D004247:DNA