?Premature anaphase? in a couple with recurrent miscarriages

Abstract

An increased frequency of mitoses with centromere separation affecting all chromosomes was found in lymphocyte cultures from a couple with recurrent spontaneous abortions. The phenomenon was observed in both the wife and husband. The abnormal behaviour of centromeres may predispose the individual to cell division errors, the consequence of which may be a spontaneous abortion.

Cell cycle and centromere FISH studies in premature centromere division

“…Association of this PCD trait with abortions and infertility has been reported [6,7,9,10]. This was observed in 12 of 34 PCD individuals from 8 of 10 previous families including present report (Table 3).…”

“…The estimated abortion frequency in descendents of reported PCD individuals was 37% (22 of 60) which is higher than those observed in general population of 15% [30]. In one report, unexplained recurrent abortion observed in both parents with PCD was considered the consequence of abnormal behavior of the centromeres involving probable homozygous effect [9]. Previous observations are coincidental but remark the occurrence of subfertility in PCD individuals.…”

“…Individuals with this condition have no recognizable clinical pattern or occur in healthy individuals. Association of this PCD trait with abortions and infertility has been reported [6,7,9,10], but other authors suggest this PCD trait to be harmless [1,8,11]. …”

Premature chromatid separation (PCS) vs. premature centromere division (PCD)

“…OMIM [no. 212790], for instance, cites a woman reported by Bajnóczky and Gardó [1993] as an instance with a PCD-related phenomenon involving various chromosomes, but in our opinion it is a typical case of PCS.…”

Detection of Premature Segregation of Centromeres in Persons Exposed to Ionizing Radiation

“…The latter is observed as early separation of one or more chromosomes in their centromere regions during prometaphase/metaphase, while the remaining chromosomes have distinctive X-or V-like morphology (Rushkovsky et al 2003). As already described (Corona-Rivera et al 2005), the phenomenon of PCD can be divided into three main categories: 1) Low frequency of PCD (up to 3% of the mitoses) observed in colchicine-treated lymphocyte cultures from normal individuals (Domínguez and Rivera 1992;Chamla and Saura 1993); 2) High frequency of PCD (5% or more) with mosaic aneuploidies (mosaic variegated aneuploidy) involving a variety of chromosomes observed in individuals with microcephaly, growth deficiency, severe mental retardation and risk of malignancy (Kawame et al 1999;Plaja et al 2001;Kajii et al 2001;Jacquemont et al 2002); 3) High frequency of PCD (5% or more) as the sole chromosome abnormality, either in association with miscarriages and infertility (Rudd et al 1983;Gabarrón et al 1986;Bajnoczky and Gardo 1993;Keser et al 1996) or as a trait considered to be harmless (Madan et al 1987;Chamla 1988;Domínguez and Rivera 1992). Furthermore, PCD is described as an almost constant finding in disorders such as Robert's syndrome (Judge 1973;Freeman et al 1974;German 1979;Parry et al 1986;Resta et al 2006), Fanconi's anemia, and ataxia teleangiectasia (Buhler et al 1987).…”