Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence. the clinical features of carriers with certain Y chromosome abnormalities remain uncertain.
Patient concerns: An apparently healthy 33-year-old man, 175cm tall and weighing 60 kg had a 6-month history of primary infertility.
Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes of this diagnosis. Several methods included semen analysis, hormone measurements, cytogenetic analysis, and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing.
Interventions: The patient underwent detailed genetic counseling. Cytogenetic analysis was advised for his father. Preimplantation genetic diagnosis was performed to improve potential pregnancy success rate.
Outcomes: Semen analysis revealed oligoasthenozoospermia. Hormone levels were within the normal limits. The karyotype of the patient and his father was 45,X,der(Y;22). Sequencing results indicated the presence of the sex-determining region on the Y chromosome gene. Y-chromosome microdeletion detection showed the presence of AZF (azoospermic factor)a, AZFb, and AZFc regions, but deletion of b2/b3 and duplication of b3/13/1 regions.
Lessons: A clinical karyotype report involving a Y chromosome abnormality should consider the results of semen analysis, which helps to identify the chromosomal breakpoint. Semiconductor sequencing technology was useful for clarifying AZF gene microdeletions.
[1]Jilin Univ, Hosp 1, Ctr Reprod Med, 71 Xinmin St, Changchun 130021, Jilin, Peoples R China.
[2]Jilin Univ, Hosp 1, Ctr Prenatal Diag, 71 Xinmin St, Changchun 130021, Jilin, Peoples R China.
[3]Jilin Univ, Jilin Engn Res Ctr Reprod Med & Genet, Changchun, Jilin, Peoples R China.
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