Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8

Abstract

We report on a 46 year old female with a new chromosomal finding [46,XX/47,XXX/47,XX,+8] who was referred for ovarian failure. The clinical presentation was highly unusual and the patient does not exhibit the characteristic phenotype of trisomy 8 syndrome. Interphase cytogenetics using FISH-technique revealed discrepancies with a different population of cells when compared with its metaphase index. Therefore, it is advised that patients with mosaic karyotypes should be evaluated by analyzing metaphase as well as interphase nuclei labeled with chromosome specific molecular tags, especially in the situations where the incidence of a mosaic cell line is very low. Nevertheless, in a cost-conscious environment, we must exercise caution prior to making universal recommendations concerning the usefulness of medical devices which are increasing at a logarithmic rate.

Chromosomal Mosaicisms during Prenatal Diagnosis

“…Or was there selective advantage during amniotic cell growth which favored normal cells due to a different cell cycle with a different chromosomal constitution? Clearly, a normal chromosomal constitution from one tissue does not indicate the presence or absence of mosaicism in other tissues and the presence of low-level mosaicism makes the situation worse [8]. The fetuses with atypical dysmorphic features at birth, which were diagnosed prenatally to be normal, should be screened by FISH technique to establish a rapid diagnosis.…”