Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

Goel, Harish Chandra; Phadke, Shubha R.

doi:10.1111/j.1439-0272.2009.01017.x

Cited by 3 publications

(5 citation statements)

References 12 publications

(14 reference statements)

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“…In various leukemia patients, t(9;11) cases with different break points were observed (18,19) . Infertility cases with balanced translocations of different chromosomes were also reported (4,6,11,20) . The common results of these gene was mapped in the 9p21-22 band region which was in the break point of our case (6) .…”

Section: Discussionmentioning

confidence: 99%

“…Sex chromosome abnormalities are the most common in human chromosomal abnormalities. The rate of sex chromosome abnormality in infertile men is 3.8%, while the abnormality rate of autosomal chromosomes are 1.3% (4) . When infertile males compared to those of normal, the incidence of structural chromosomal abnormalities in men 1-4 times higher (1)(2)(3)(4)(5) .…”

Section: Introductionmentioning

confidence: 96%

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The Effect of Familial Balanced Reciprocal Tranlocation t(9;11)(p12;p11.2) to Reproductive Performance

Ökten¹,

Kara²,

Tural³

et al. 2012

J Turk Soc Obstet Gynecol

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Aim: In this study, we report a couple who had been infertility problem for eight years and they had four failed IUI and one failed IVF. In second IVF attempt the women got pregnant and it resulted with abortion in eight week. Material and metods: Cytogenetic analysis was performed by standart peripheral blood culture and GTG method by using phytohemagglutinin-stimulated lymphocyte. Results: The women and her husband were phenotypically normal but karyotype analysis revealed 46, XX and 46,XY,t(9;11)(p12;p11.2) respectively. The mother of the husband's karyotype analysis showed the same translocation. The father of the husband's could not examined because he was not alive. Also two uncles of the husband were suffered from infertility for fifteen and five years respectively. However cytogenetic analyses of the uncles had not been accomplished yet. Balanced translocation carriers could give unbalanced chromosomes. Conclusion: The infertility cases of especially monosomy 9p and the other similar translocations that can result from the parents of balanced translocation carriers are represented here by comparing.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

The Effect of Familial Balanced Reciprocal Tranlocation t(9;11)(p12;p11.2) to Reproductive Performance

Ökten¹,

Kara²,

Tural³

et al. 2012

J Turk Soc Obstet Gynecol

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show abstract

“…Therefore, it is very important to determine the underlying genetic factors in male infertility. Infertility cases associated with balanced translocations formed by different chromosomes such as t (13;19), t (3;5), t (9;11), t (7;16), t (6,12), t (8;13), t (18;21) were reported [5,[10][11][12][13][14]. To the best of our knowledge, this is the first report in the literature of balanced non-robertsonian reciprocal autosomal translocation t (10;19) (q11.2;q13.4) associated with male infertility.…”

Section: Discussionmentioning

confidence: 99%

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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“…The incidence of the most common genetic aneuploidies responsible for male infertility is shown in Table 1. Although chromosome aneuploidies are rare in fertile men (~0.5% in normal population), their incidence in azoospermic individuals varies from 2% to 15% [10,11]. Sex or autosomal chromosome defects, as well as numerical and structural defects are the most common type of chromosomal anomalies that can be seen in infertile subjects.…”

Section: Types Of Chromosomal Abnormalities and Male Infertilitymentioning

confidence: 99%

“…Although all chromosomes can be contributed in reciprocal translocations, chromosomes 13 and 14, 13 and 21, and 21 and 22 are the typical targets for this translocation [34]. There are many cases of male infertility due to balanced reciprocal translocation between chromosomes 10 and 15 (q26; q12) [35], 6 and 12 (q23; q24) [36], 8 and 13 (q22; q11.2) [11], 18 and 21 (p11; q21) [37], 9 and 20 (q21.2; p13.3) [38]. In all carriers, these translocations impact on spermatogenesis and consequently cause poor quality of sperm, severe azoospermia and infertility.…”

Section: Structural Abnormalities Of Chromosome and Male Infertilitymentioning

confidence: 99%

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Marzouni¹,

Harchegani²,

Layali³

2021

JOMH

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Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identiﬁcation of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identiﬁcation of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

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Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

Cited by 3 publications

References 12 publications

The Effect of Familial Balanced Reciprocal Tranlocation t(9;11)(p12;p11.2) to Reproductive Performance

The Effect of Familial Balanced Reciprocal Tranlocation t(9;11)(p12;p11.2) to Reproductive Performance

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

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

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