Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature

Vol. 43 (x): 2017 November 11.[Ahead of print]

doi: 10.1590/S1677-5538.IBJU.2017.0233


REVIEW ARTICLE

Xinyue Zhang 1, Hongguo Zhang 1, Cong Hu 1, Ruixue Wang 1, Qi Xi 1, Ruizhi Liu 1
1 Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China

ABSTRACT

Objective: 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.

Keywords:  Infertility, Male; Chromosomes, Human, Pair 2; Genetic Counseling

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