Non-Robertsonian translocation t (2;11) is associated with infertility in an oligospermic man

Ananthapur, Venkateshwari; Srilekha, Avvari; Veena, K V; Sujatha, M.; Jyothy, A.

doi:10.1111/and.12120

Cited by 12 publications

(10 citation statements)

References 10 publications

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“…Karyotype analysis is the most powerful and widely used application in reproductive medicine (Pasquier et al, 2016). Chromosomal abnormality is associated with infertility, and its incidence ranges from 2.1 to 15.5% in infertile men (Ananthapur et al, 2014). In this study, the detection rate of chromosomal abnormalities was 10.3% (234/2,282).…”

Section: Discussionmentioning

confidence: 61%

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Guo

Wang

et al. 2016

Genet. Mol. Res.

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Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

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Section: Discussionmentioning

confidence: 61%

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Guo

Wang

et al. 2016

Genet. Mol. Res.

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“…Most balanced chromosomal aberrations are not associated with a clinical phenotype; however, in some patients they may disrupt gene structure (Olesen et al, 2001;Pernice et al, 2002;Bianco et al, 2011;Li et al, 2014). Ananthapur et al (2014) reported the unusual non-Robertsonian translocation 46,XY,t(2;11)(p14;q21), found in an infertile oligozoospermic man with no clinical manifestations other than primary infertility.…”

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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“…Chromosome analysis is a valuable tool for the diagnosis of male infertility and chromosomal defects are the most common genetic abnormalities in infertile men, with an incidence of cytogenetic abnormalities ranging from 2.1 to 15.5% (Ananthapur et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

“…The rate of chromosomal abnormality in infertile men is 2.1-19.48% (Yatsenko et al, 2010;Fu et al, 2012;Ghorbel et al, 2012;Quan et al, 2013;Ananthapur et al, 2014;Kate et al, 2014). Chromosomal defects may decrease male fertility and increase the history of female adverse fertility outcomes, e.g., recurrent spontaneous abortion or stillbirth.…”

Section: Introductionmentioning

confidence: 99%

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

Zhang¹,

Ht²,

Qs³

et al. 2015

Genet. Mol. Res.

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Non-Robertsonian translocation t (2;11) is associated with infertility in an oligospermic man

Cited by 12 publications

References 10 publications

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

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

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

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