Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature

Abstract

Rationale: Infertile male carrying balanced translocations can be broadly divided into two types: pregestational and gestational infertility. Chromosome and breakpoints involved translocation should be considered in genetic counselling for these patients. To date, > 100 cases have been described with carrying balanced translocations involving chromosome 10 in fertile male.

Patient concerns: We report 11 cases translocation carriers involving chromosome 10, and review 99 carriers of chromosome 10 translocation from reported literature.

Diagnoses: Eleven cases of chromosomal translocation were diagnosed by cytogenetic analysis. Three of these men had azoospermia or oligozoospermia, while eight had normal semen. Of these latter cases, their partners were able to conceive, but had a tendency to miscarry or have a stillbirth.

Interventions: Chromosome breakpoints should be considered in genetic counseling. Preimplantation genetic diagnosis should be performed to decrease the high risk of miscarriage and to minimize the genetic risks to offspring for patients with gestational infertility.

Outcomes: The most common translocations and breakpoints were at t(4;10) and 10q24, observed in 12 and 10 patients respectively. Breakpoints at 10p15.1, 10p12, 10q10, 10q22.1, 10q24.2, and 10q26.3 were linked to pregestational infertility; breakpoints at 10p12.1, 10q11, 10q21.2, and 10q23.3 were associated with gestational infertility; the other breakpoints were connected with both forms of infertility.

Lessons: Breakpoints at 10p12 and 10q26.3 were associated with pregestational infertility. Other breakpoints at chromosome 10 were correlated with gestational infertility. These breakpoints should be considered when counseling men with chromosome 10 translocations should be informed of their options.