Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated wi...

background: cytogenetic analysis, y-chromosome microdeletion screening, fish techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade. objective: in the present study, we characterized an abnormal y-chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. materials and met...

Background and Aims: Azoospermia factor (AZF) region of the Y-chromosome has several genes which are responsible for normal spermatogenesis. Microdeletions of these genes are associated with azoospermia and oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily identified using polymerase chain reaction. The aim of this study is to determine the frequ...

background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

Background: Microdeletions of the long arm of the chromosome Y are the most common molecular genetic cause of severe infertility in men which affect three regions of AZFa, AZFb and AZFc (Azoospermia factor). These regions contain various genes involved in spermatogenesis. The effect of ethnicity on the patterns of Y chromosome microdeletions has not been extensively studied, particulary in Iran...

The success of the Human Genome Project (HGP) has provided a blueprint for the approximately 20,000 gene-encoded proteins potentially active in all of the hundreds of cell types that make up the human body. Yet we still have limited knowledge about a majority of the gene-encoded proteins which are the “building blocks of life” and “cellular machinery”. It is estimated that for nearly half of th...

objective: microdeletions of the y chromosome long arm are the most common molecular genetic causes of severe infertility in men. they affect three regions including azoospermia factors (azfa, azfb and azfc), which contain various genes involved in spermatogenesis. the aim of the present study was to reveal the patterns of y chromosome microdeletions in iranian infertile men referred to royan i...

The Human Genome Project has generated a blueprint for the approximately 20,300 gene-encoded proteins potentially active in any of 230 cell types that make up the human body (human proteome). However, based on the UniProtKB/Swiss-Prot database content, about 6000 of at the protein level; for many others, there is very little information related to protein function, abundance, subcellular locali...

Objective Approximately 15 percent of couples are infertile. The male factor is responsible for approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletion within the proximal long arm of the Y chromosome (Yq11), named azoospermia factor (AZF) region. Recent studies have also demonstrated that there is a potential connection ...