Format

Send to

Choose Destination
Medicine (Baltimore). 2019 Apr;98(15):e15209. doi: 10.1097/MD.0000000000015209.

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

Jia C1,2, Li L1,2, Chen S1,2, Li D1,2, Wang X1,2, Liu R1,2, Zhang H1,2.

Author information

1
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital.
2
Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.

Abstract

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.

PMID:
30985718
PMCID:
PMC6485881
DOI:
10.1097/MD.0000000000015209
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wolters Kluwer Icon for PubMed Central
Loading ...
Support Center