Are heterochromatin polymorphisms associated with recurrent miscarriage?

Çağlayan, Ahmet Okay; Özyazgan, İrfan; Demiryilmaz, Fatma; Özgün, Mahmut Tuncay

doi:10.1111/j.1447-0756.2010.01207.x

Cited by 25 publications

(28 citation statements)

References 8 publications

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“…In recent years, more and more studies have shown an increased incidence of chromosomal polymorphism variation in infertile couples [20,21]. Some studies have demonstrated that 2.0–14.0% of infertile men have constitutional chromosomal abnormalities [20,21].…”

Section: Discussionmentioning

confidence: 99%

“…Most often, chromosomes vary in size and position of heterochromatin in the 1qh, 9qh, and 16qh regions. Although inherited variants have been reported not to be associated with any risk for phenotypic abnormalities, chromosomal heteromorphisms have been found to have a higher frequency relative to the normal population and have been regarded as abnormalities in some studies [11,17,20,21]. Recent studies suggest that classical euchromatic variants of 9qh+/12qh+ and heteromorphism on chromosome 6q may be responsible for recurrent abortions [29,30].…”

Section: Discussionmentioning

confidence: 99%

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Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Mierla¹,

Stoian²

2012

Balkan Journal of Medical Genetics

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Cytogenetic heteromorphisms are described as variations at specific chromosomal regions with no impact on phenotype. The purpose of this study was to investigate the effects of these chromosomal polymorphisms involved in reproductive failure in the Romanian population.One thousand eight hundred and nine infertile patients, who were referred to Life Memorial Hospital, Bucharest, Romania, between January 2008 and April 2011, were investigated in this retrospective study. The frequency of chromosomal polymorphic variations was calculated for these patients. The control group is represented by 1116 fetuses investigated by amniocentesis between January 2009 and April 2011.In this study 122 (6.74%) infertile patients and 63 fetuses (5.65%) showed chromosomal polymorphic variations. The differences between the two groups was not statistically significant (p <0.242) but there was statistical significance for some specific chromosomal polymorphisms [inv(9),1qh+, 9qh+, fra(17)].Some chromosomal polymorphic variations appear to be associated with reproductive failure. The statistically significantly higher incidence of heterochromatic variations found in infertile individuals emphasizes the need to assess their role in infertility and subfertility.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Mierla¹,

Stoian²

2012

Balkan Journal of Medical Genetics

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“…Cytogenetic research conducted on patient groups with recurrent pregnancy loss reports between 4 and 18.9% chromosome heteromorphism, which is higher than the normal population, and it has been suggested that these cases of heteromorphism may be associated with fetal loss (Makino et al, 1990;Düzcan et al, 2003;Sahin et al, 2008;De la FuenteCortés et al, 2009;Caglayan et al, 2010). However, comparative studies with control groups have yielded contradictory results.…”

Section: Discussionmentioning

confidence: 98%

“…In this respect, there are many studies suggesting that there is no relationship between control groups and couples with fetal loss (Blumberg et al, 1982;de Braekleer and Dao, 1990). In recent studies, however, Caglayan et al (2010) have reported a statistically higher rate of chromosome heteromorphism in the patient group (8%) compared to the control group (4%), suggesting that if the patients experiencing recurrent abortion have such heteromorphisms, their chances for further abortions may be higher than other populations without such heteromorphisms in future pregnancies. Sahin et al (2008) found a statistically higher rate of chromosome heteromorphism in infertile couples (6.52%) compared to the control group (1.77%).…”

Section: Discussionmentioning

confidence: 99%

Chromosome heteromorphisms are more frequent in couples with recurrent abortions

Akbas

Isi²,

Oral³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

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“…In recent years, research has demonstrated that Y chromosome polymorphisms could contribute to homologous chromosome pairing and chromosome segregation. However, Y chromosome polymorphisms could also discourage homologous chromosome pairing during the cell division phase, thus causing disorders such as cell division disorder, embryonic developmental disorder, teratogenic disorders, stillbirth and miscarriage [23,24]. The clinical symptoms of URM are further analysed and compared with the characteristics of individuals carrying normal Y chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Y chromosome polymorphisms may contribute to an increased risk of male-induced unexplained recurrent miscarriage

Wang

Zuo

et al. 2017

Bioscience Reports

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The present study aims to explore the relationship between the Y chromosome polymorphisms (1qh+, inv(9), 9qh+, 16qh+, group D/G, Yqh– and Yqh+) and the risk of unexplained recurrent miscarriage (URM). A total of 507 couples with URM were recruited as case group and 465 healthy couples as control group. The Y chromosome polymorphisms of the male individuals were analysed with the G-banding technique, and the results of the chromosome G-banding analysis were determined using the International Naming Standards of Human Genetics (ISCN). Logistic regression analysis was used to analyse the risk factors for URM. The detection rate of Y chromosome polymorphisms in the case group (12.03%) was higher than that in the control group (2.15%). Y chromosome polymorphisms were detected at significantly higher rates in the case group than in the control group. Using the normal Y chromosomes in individuals of the case group as reference, the partners of their counterparts were more likely to experience miscarriage. The couples who were Y chromosome-polymorphism carriers had shorter gestational age, increased frequency of URM and longer average interval between pregnancies. The results of logistic regression analysis revealed that Y chromosome polymorphisms, shorter gestational age, a higher frequency of miscarriage and longer pregnancy interval were independent risk factors for URM. Y chromosome polymorphisms may be associated with the risk of URM and may play an important role in the development of URM.

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Are heterochromatin polymorphisms associated with recurrent miscarriage?

Cited by 25 publications

References 8 publications

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Chromosomal Polymorphisms Involved in Reproductive Failure in the Romanian Population

Chromosome heteromorphisms are more frequent in couples with recurrent abortions

Y chromosome polymorphisms may contribute to an increased risk of male-induced unexplained recurrent miscarriage

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