RT Journal Article
SR Electronic
T1 A rare heteromorphism of chromosome 20 and reproductive loss.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 477
OP 478
DO 10.1136/jmg.28.7.477
VO 28
IS 7
A1 D R Romain
A1 S Whyte
A1 D F Callen
A1 H J Eyre
YR 1991
UL http://jmg.bmj.com/content/28/7/477.abstract
AB A rare centromeric heterochromatic variant of chromosome 20 was encountered during investigations in a couple with repeated miscarriages. The enlarged segment was G and C band positive and stained positively by Giemsa II. In situ hybridisation of the biotinylated alphoid probe D20Z1 specific for the centromere of chromosome 20 to metaphase cells confirmed the presence of amplified sequences adjacent to the centromere. The variant was found to be familial and was evaluated as having no clinical significance.