Molecular cytogenetic studies of a male carrier with a unique (Y;14) translocation: Case report

Abstract

Background Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation. Methods We reported that an apparently healthy 31‐year‐old man, 168 cm tall and weighing 65 kg, had a 2‐year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high‐throughput multiplex ligation‐dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy. Results Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex‐determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH. Conclusion This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.

Association between chromosome 22q11.2 translocation and male oligozoospermia

“…[5] Most of male carriers involved in sex chromosome translocation show azoospermia. [20][21][22][23] About 60% of male carriers with autosomal translocation have at least one abnormal parameter in their semen analysis. [24,25] The difference of these semen parameters depends on the specific chromosome and breakpoints involved in translocation.…”