Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families

Vozdová, Miluše; Musilová, Petra; Kašíková, Kateřina; Prinosilova, P.; Gaillyová, Renata; Rubeš, Jiřı́

doi:10.1016/j.fertnstert.2011.04.042

Cited by 12 publications

(16 citation statements)

References 15 publications

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“…Consequently, the primary incidence of chromosome malsegregation can be assessed. Some previous studies, investigating embryos produced by carriers of chromosome rearrangements undergoing PGD, have produced data supporting the existence of an ICE [8], [12]. However, once again there is controversy with other research suggesting that an ICE is either entirely absent or negligible in these patients [15].…”

Section: Introductionmentioning

confidence: 97%

Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

et al. 2012

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Balanced chromosomal rearrangements represent one of the most common forms of genetic abnormality affecting approximately 1 in every 500 (0.2%) individuals. Difficulties processing the abnormal chromosomes during meiosis lead to an elevated risk of chromosomally abnormal gametes, resulting in high rates of miscarriage and/or children with congenital abnormalities. It has also been suggested that the presence of chromosome rearrangements may also cause an increase in aneuploidy affecting structurally normal chromosomes, due to disruption of chromosome alignment on the spindle or disturbance of other factors related to meiotic chromosome segregation. The existence of such a phenomenon (an inter-chromosomal effect—ICE) remains controversial, with different studies presenting contradictory data. The current investigation aimed to demonstrate conclusively whether an ICE truly exists. For this purpose a comprehensive chromosome screening technique, optimized for analysis of minute amounts of tissue, was applied to a unique collection of samples consisting of 283 oocytes and early embryos derived from 44 patients carrying chromosome rearrangements. A further 5,078 oocytes and embryos, derived from chromosomally normal individuals of identical age, provided a robust control group for comparative analysis. A highly significant (P = 0.0002) increase in the rate of malsegregation affecting structurally normal chromosomes was observed in association with Robertsonian translocations. Surprisingly, the ICE was clearly detected in early embryos from female carriers, but not in oocytes, indicating the possibility of mitotic rather than the previously suggested meiotic origin. These findings have implications for our understanding of genetic stability during preimplantation development and are of clinical relevance for patients carrying a Robertsonian translocation. The results are also pertinent to other situations when cellular mechanisms for maintaining genetic fidelity are relaxed and chromosome rearrangements are present (e.g. in tumors displaying chromosomal instability).

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Section: Introductionmentioning

confidence: 97%

Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

et al. 2012

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“…The incidence of chromosomally imbalance or aneuploid gametes may even vary between individual translocation carriers, even if where the same chromosomes are involved in the translocation (Vozdova et al, 2008). For carriers of balanced chromosomal translocations, in vitro fertilization accompanied by preimplantation genetic diagnosis (PGD) increases the chance of their fathering a healthy child (Vozdova et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling

Zhang¹,

Wang²,

Li³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Balanced chromosomal translocations in men can cause failure of spermatogenesis owing to meiotic impairment. Male carriers may exhibit normozoospermia, although clinical manifestations can include oligozoospermia or azoospermia, oligozoospermia or normozoospermia. Here, we reported the characteristics of balanced reciprocal translocations in men from northeastern China, and explored the relationship between sperm count and reproductive performance, to enable informed genetic counseling. The frequency of balanced reciprocal translocations was found to be 1.62%. Semen analysis showed that 5.9% of male carriers had azoospermia, 43.1% had oligozoospermia, and 51.0% had normozoospermia. Of the 25 men with a balanced reciprocal translocation and azoospermia or oligozoospermia, chromosome 1 was the most commonly often involved in the translocation. However, in the 26 normozoospermic men with a balanced reciprocal translocation and normozoospermia, chromosome 3 was most commonly implicated. Fifty percent of men with a balanced reciprocal translocation conceived a pregnancy that went to term. Our data suggest that of all chromosomes, Reciprocal translocations in northeastern Chinese men 18793©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18792-18798 (2015) chromosomes 1 and 3 are the most commonly involved chromosomes in balanced reciprocal such translocations in northeastern Chinese men. Karyotype analysis should be performed for men with azoospermia, oligozoospermia, and those in couples having suffered recurrent miscarriages. Natural conception should be discussed during genetic counseling for male carriers of balanced chromosomal translocations with normozoospermia.

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“…Data show divergent results regarding the occurrence and distribution of ICE among carriers. Whereas some authors have observed a significant increase of numerical abnormalities for many of the chromosomes analyzed [Rousseaux et al 1995a;Rousseaux et al 1995b;Van Hummelen et al 1997;Blanco et al 1998;Mercier et al 1998;Blanco et al 2000;Amiel et al 2001;Morel et al 2001;Oliver-Bonet et al 2001;Baccetti et al 2002;Oliver-Bonet et al 2002;Anton et al 2004a;Anton et al 2004b Machev et al 2005;Anton et al 2006;Chen et al 2007;Wiland et al 2007;Anton et al 2008;Vozdova et al 2008;Juchniuk de Vozzi et al 2009;Anton et al 2010;Pellestor et al 2011;Vozdova et al 2011b], others have not [Martini et al 1998;Cifuentes et al 1999;Honda et al 1999;Estop et al 2000;Rives et al 2003;Mikhaail-Philips et al 2004;Oliver-Bonet et al 2004;Mikhaail-Philips et al 2005;Hatakeyama et al 2006;Kekesi et al 2007;Vialard et al 2007].…”

Section: Interchromosomal Effectmentioning

confidence: 98%

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

Antón¹,

Vidal

Blanco

2011

Systems Biology in Reproductive Medicine

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Structural reorganization carriers usually present compromised fertility accompanied by an increased risk of producing gametes with chromosomal abnormalities that can be transmitted to the offspring. In part these imbalances are ascribed to result from the occurrence of meiotic disturbances produced by the rearrangements in the proper segregation of other chromosome pairs. This phenomenon of interference has been called interchromosomal effect (ICE). Several studies have been performed to assess the occurrence of ICE in structural reorganization carriers by analyzing the frequencies of numerical abnormalities in the gametes. Nevertheless, the occurrence and distribution of these disturbing events still is a controversial issue. In this work we present compiled data from 130 sperm fluorescent in situ hybridization (FISH) studies performed in carriers of the most frequent structural rearrangements in humans: 44 Robertsonian translocations, 66 reciprocal translocations and 13 inversions. Data from 7 complex/multiple rearrangements will be considered in a separate group. Significant increases of gametes with numerical abnormalities have been detected in all types of reorganization carriers. Among the groups of non-complex/multiple rearrangements, Robertsonian translocations appear to be the most prone to produce such interference (54.5%) closely followed by reciprocal translocations (43.9%). In contrast, ICE's were only detected in 7.7% of the inversion carriers analyzed. The presence of complex/multiple rearrangements seems to be an important factor for promoting ICE, as 71.4% of these carriers presented increased rates of gametes with numerical abnormalities. Altogether, almost half of the structural reorganization carriers (45.4%) present a higher reproductive risk of producing aneuploid/diploid spermatozoa compared to the general population. This high incidence has been obtained by analyzing a small set of chromosomes, suggesting that underlying meiotic disorders could be present in these individuals. Further ICE studies in structural reorganization carriers will help to clarify the still unknown predisposing cytogenetic features that promote this phenomenon.

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Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families

Cited by 12 publications

References 15 publications

Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

Embryos of Robertsonian Translocation Carriers Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development

Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling

Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers

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