Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)

Vozdová, Miluše; Oráčová, Eva; Hořínová, Věra; Rubeš, Jiřı́

doi:10.1093/humrep/dem345

Cited by 33 publications

(28 citation statements)

References 38 publications

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“…These aberrations principally occur by two mechanisms: unbalanced segregation of the chromosomes involved in the translocation during meiosis, and the occurrence of an interchromosomal effects (Godo et al, 2013). The prevalence of abnormal segregation depends on the specific chromosomes involved in the translocation, the localization of breaks, and the frequency of chiasmata (Vozdova et al, 2008). 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).…”

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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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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“…The other way is the increase of the aneuploidy frequencies of other chromosomes that are not related to the rearrangement. While sperm count is inversely correlated with the frequency of contact, oogenesis is relatively preserved in the presence of such chromosomal aberrations as seen in number of families with balanced chromosomal structural rearrangements associated with the female fertility [17]. A significant limitation of this case report is the non-availability of karyotype in other family members.…”

Section: Discussionmentioning

confidence: 86%

Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male

Kara¹,

Şen²,

Çetin³

et al. 2014

EAJM

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Chromosomal rearrangements are usually associated with male factor infertility. We report here a 34-year-old man suffering from primary infertility for 15 years. The cytogenetic analysis and investigation of Y-chromosome microdeletions were performed. A reciprocal balanced translocation t (10;19) (q11.2;q13.4) was found in oligozoospermic infertile men with no Y-chromosome microdeletions. In this case, we aimed to evaluate the 46,XY,t (10;19) (q11.2;q13.4) karyotype, which was detected through a cytogenetic analysis of a person referred to our genetic laboratory due to primary infertility, in the light of the literature.

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“…When gametes with an unbalanced translocation are present, they will infrequently fertilize the ovum to produce abnormal zy- gotes. Hence, determining the frequency of unbalanced gametes can help to establish a reproductive prognosis in individual cases and provide a reasonable assessment of the chances of having a normal or balanced embryo (Vozdova et al, 2008). Vozdova et al (2008) reported that the incidence of chromosomally unbalanced or aneuploid gametes varies in individual translocation carriers, even if the same chromosomes are included in the translocation.…”

Section: Discussionmentioning

confidence: 99%

Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling

et al. 2015

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ABSTRACT.Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6) (q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resulted in spontaneous abortions. Based on the proband karyotype, his father and half-brother were subjected to cytogenetic analysis, and both showed 46,XY, t(3;6)(q12;q27). After genetic counseling, the proband chose to continue the pregnancy. During the third pregnancy, the subject gave birth to a normal male infant. For parental carriers with balanced chromosomal translocations, natural pregnancy should be considered during genetic counseling.

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Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)

Abstract: The incidence of chromosomally unbalanced or aneuploid gametes varies in the individual translocation carriers even if the same chromosomes are included in the translocation. FISH analysis provides information useful for genetic counseling and assisted reproduction.

Cited by 33 publications

References 38 publications

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

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

Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male

Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling

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