Cargando…

Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation: A case report

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 chromos...

Descripción completa

Detalles Bibliográficos
Autores principales: Jia, Chunshu, Li, Linlin, Chen, Shuang, Li, Dejun, Wang, Xuan, Liu, Ruizhi, Zhang, Hongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485881/
https://www.ncbi.nlm.nih.gov/pubmed/30985718
http://dx.doi.org/10.1097/MD.0000000000015209
Descripción
Sumario: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, 175 cm 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/b4 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.