Elemental Analysis of Condiments, Food Additives and Edible Salts Using X-Ray Fluorescence Technique

摘要

In this study we describe clinical and cytogenetic findings in a male referred to our laboratory for cytogenetic investigation. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Genomic DNA was isolated from blood and PCR was carried out with a set of 6 AZFa, AZFb and AZFc STS markers to detect the Y microdeletions. The patient’s age was 36 at the time of referral. Severe oligoasthenoteratozoospermia was confirmed on semen analysis. The karyotype of peripheral blood showed 46, XY, ins(1;2) (p31; p13p23). To the best of our knowledge this is only the four report in literature of infertile patient with chromosomal insertion but, there is no previous report of this specific chromosome rearrangement. Such an autosomal anomaly may lead to the disruption of genes responsible for spermatogenesis or impaired synaptic complex pairing during meiosis resulting in reproductive failure.