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...

Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were dete...

Background: We are convinced that better infertility treatment will only be achieved with a better under understanding of the molecular mechanisms specific to each patient. To that effect we want to indentify genes involved in male infertility. Materials and Methods: We screened cohorts of infertile men to identify the cause of their infertility. Results: Our team has identified and caracterize...

A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo ...

15q11-13 chromosome region contains five breakpoints (BP1-BP5). Chromosomal rearrangements are common in this region. The microdeletion of BP1-BP2 region represents the 15q11.2 microdeletion syndrome associating with variable phenotype. We investigated a ten years old boy with hypotony. His motoric functions, speech and intellectual development were delayed. He suffered from epilepsy and showed...

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for ...

The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility a...