Case Report - Nucleolar organising region evaluation using new NOR FISH probe

We have carried out chromosomal analysis in a couple with repeated spontaneous abortions (RSA). The chromosomal analysis of male revealed 15ps+ and the chromosome 15 appeared as submetacentric, C- group chromosome. First time we have attempted fluorescence in situ hybridization (FISH) using NOR probe (dJ1174 A5) and FISH analysis revealed NOR duplication on chromosome 15 which was also quantitated using Q-FISH software. The identical NOR duplication also detected in chromosome preparations from products of conception. However, NOR studies in large group of patients is necessary to understand the role of NORs in RSA.

Keywords
NOR duplication, addition on chromosome 15, repeated spontaneous abortions, NOR variation, FISH NOR