Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature.

ABSTRACT

OBJECTIVE: To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia. DESIGN: Case report with review of the scientific literature. SETTING: Cytogenetics department. PATIENT(S) Two men with azoospermia and normal hormonal levels. INTERVENTIONS(S) Peripheral blood lymphocytes were obtained for karyotype, and metaphases were studied by standard GBG, RBG, and CBG banding procedures. MAIN OUTCOME MEASURE(S) Karyotype GBG, RBG, and CBG banding. RESULT(S) Karyotype revealed balanced translocation involving a chromosome 1 whole arm and an acrocentric G chromosome p arm 46,XY,t(1;21)(q11;p13) (patient 1) and 46,XY,t(1;22)(q11;p11) (patient 2). CONCLUSION(S) With regard to published cases of whole-arm translocation of human chromosome 1 with an acrocentric p arm and a maternal origin of these abnormalities, we argue for an impairment of meiosis resulting in a high probability of quadrivalent-XY-body interaction. Male factor infertility might be due to two poor prognostic factors, first the involvement of human chromosome 1 (and its heterochromatic region) and second the involvement of an acrocentric chromosome p-arm breakpoint. This probable interaction between the pachytene quadrivalent and XY body might explain azoospermia.