Association of Severe Oligospermia With a Balanced Translocation t(6;22)(p12;p11) in an Infertile Male: a Case Study

سال انتشار: 1397
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 377

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شناسه ملی سند علمی:

CIGS15_178

تاریخ نمایه سازی: 13 بهمن 1398

چکیده مقاله:

Objective: Infertility affects about 15 % of couples attempting pregnancy, with male factor infertility identified in roughly 20-30% of the cases. However, many aspects of male infertility are poorly understood, and many cases of male infertility are diagnosed as idiopathic. Cytogenetic analysis is becoming increasingly important for characterizing a number of causes of infertility. It has been reported that male infertility may be associated with chromosomal aberrations, which usually involve sex and autosomal chromosomes.Materials and Methods: We report a 36-year-old man with 12 years’ primary infertility and severe oligospermia. Peripheral blood lymphocytes were obtained for karyotyping, and 39 metaphases were studied by standard trypsin GTG technique. Investigation of Y-chromosome microdeletions was performed by the multiplex polymerase chain reaction (PCR) method.Result(s): An apparently unique reciprocal translocation t(6;22)(p12;p11) was found. In this study, according to our knowledge, this is the first report of t(6;22)(p12;p11) translocation in a severe oligozoospermic infertile male. No Y-chromosome microdeletions were found. Conclusion(s): Physical contact of unpaired autosomal material with sex chromosomes, which leads to spermatogenic arrest, may be one of the factors that accounts for infertility in men with autosomal abnormalities. Therefore this case supports the relationship between chromosomal aberrations with male infertility. Investigation of genetic alterations in infertile males has to be performed prior to performing any assisted reproduction technique.

نویسندگان

Naser Ajami

Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

Mojtaba Hasanpour

Medical Genetics department, Boushehr University of medical sciences, Boushehr, Iran.. Mehr Medical Diagnostic Laboratory, Boushehr, Iran

Maryam Khavari

Mehr Medical Diagnostic Laboratory, Boushehr, Iran

Mohamad Reza Farzaneh

Department of pathology, Boushehr University of Medical Sciences, Boushehr, Iran