Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications.
We describe 2 families in which acrocentric short arm material moved from one chromosome to another. In case 1, a meiotic event resulted in movement of an unusually large paternal 21p to chromosome 13 in the fetus. In case 2, a mitotic event resulted in fetal mosaicism. The short arm material from a paternal chromosome 15 moved to chromosome 14 in some of the fetal cells. Movement of acrocentric short arm material resulted from breakage and exchange in centromeric areas of repetitive DNA. We suggest the mechanism may be similar to that of previously reported "jumping" translocations. Failure to recognize movement of the short arms of acrocentric chromosomes can result in erroneous interpretation of prenatal cytogenetic results and of other cytogenetic assays dependent on acrocentric short arm polymorphisms.
Farrell
S A
SA
Division of Genetics, Credit Valley Hospital, Mississauga, Ontario, Canada.
Winsor
E J
EJ
Markovic
V D
VD
D000328:Adult; D002877:Chromosomes, Human / Q000648:ultrastructure; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D004276:DNA, Satellite; D005260:Female; D005333:Fetus; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic
D004276:DNA, Satellite