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...

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 ...

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: 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: microdeletions of the azoospermia factor locus of the long arm of y chromosome are an etiological factor of severe oligozoospermia or azoospermia. objective: the aim of this study was to investigate the prevalence of y-chromosome microdeletions in azf region and their role in infertility in pakistani population. materials and methods: the type of deletions in azf locus were detected...

background: about 15% of couples have infertility problems which 40% of them are related to the male factors. genetic factors are candidate for about 10% of male infertility conditions. among these, azfa, azfb, azfc and azfd regions on the yq are considered most important for spermatogenesis. microdeletions of these regions are thought to be involved in some cases of azoospermic or oligospermic...

Background: The Y chromosome microdeletion is one of the best-documented causes of male infertility but the factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. In view of this, the objective of the present study was to explore...

Denaturing High-Performance Liquid Chromatography (DHPLC) is a recently developed technique forthe detection of single nucleotide polymorphisms (SNPs) and mutations. It involves the comparisonbetween two or more DNAs as a mixture of denatured and reannealed PCR products. The methodologyis based on the principle of reversed phase liquid chromatography and uses a unique DNA sepa...

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...