Abstract
ABSTRACTObjective:To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients.Materials and Methods:Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed.Results:Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility.Conclusions:All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis.
Highlights
Infertility affects approximately 15%20% of couples who attempt to have children
Reciprocal translocations are present in 0.9/1000 newborns, and the incidence in the infertile male population is 7-10 times higher than in fertile men (1, 2)
Individuals affected by such translocations are associated with reproductive problems such as infertility, recurrent pregnancy loss, and malformed offspring (5)
Summary
Reciprocal translocations are present in 0.9/1000 newborns, and the incidence in the infertile male population is 7-10 times higher than in fertile men (1, 2). Chromosomal translocations may cause the loss of genetic material at the breakpoints and could result in testicular failure (4). Individuals affected by such translocations are associated with reproductive problems such as infertility, recurrent pregnancy loss, and malformed offspring (5). These effects are related to the specific chromosomes and breakpoints involved in the translocation (6, 7). Some translocation breakibju | Clinical feature of chromosome 2 translocation points can disrupt the structure of an important gene, leading to male infertility (8)
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