BACKGROUND The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226 infertile men undergoing ICSI were tested. ...

Y chromosome microdeletions are the second genetic cause of male infertility. The incidence of Y chromosome microdeletions can vary considerably depending on several factors, including patient selection criteria, population composition, and diagnostic protocols. They are associated with spermatogenic failure and lead to azoospermia or oligozoospermia. The advance in assisted reproductive techno...

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...

Idiopathic azoospermia and oligospermia are one of the most important reasons for male infertility. Abnormal karyotype and azoospermia factor (AZF) microdeletion are two widely acknowledged reasons, but the most causes remain unclear. Y chromosome, as the male-specific chromosome, is closely related to the development of male reproductive system. To understand better the etiology of idiopathic...

Objective microdeletions of Yq chromosome are the most frequent molecular genetics etiology for the male infertility which usually spans AZFa (azoo spermia factor a), AZFb and AZFc regions. Microdeletions are mostly seen in AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletion may also happen with various spans namely gr/gr, b2/b3 and b1/b3. It is ...

BACKGROUND As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain...

____________________________________________________________ 9 Introduction ________________________________________________________ 11 Review of the literature ________________________________________________ 12 1 Early human embryonic development _______________________________ 12 1.1 Fertilization __________________________________________________ 12 1.2 Implantation ________________________...

Background. Aromatase inhibitors (AIs) can significantly improve semen parameters in infertile men. In this study, we investigated the efficacy of AIs for azoospermia a Chinese population with AZFc microdeletion. Aims. Patients microdeletion who were treated analyzed retrospectively by collecting clinical data, including their hormone profile and treatment outcome. divided into those sperm afte...

Background: Estrogen is recognized as one of the significant regulator of spermatogenesis. Estrogens are synthesized in the male reproductive system (sertoli and leydig cells). Estrogen function is mediated by estrogen receptors (ER-α or ER-β). Some studies have suggested an association between single nucleotide polymorphisms (SNPs) rs2234693 (ESR1 pvuII C>T), rs1801132 (ESR1 325 C->G) of ERα g...

Three unrelated patients with similar microdeletions of chromosome 14q32.11 shared phenotypes including language and developmental delay, four overlapping genes -CALM1, TTC7B, PSMC1, RPS6KA5 have been presented. All are expressed in the brain haploinsufficiency scores, which reflect low tolerance to loss function variation. An insight on region, may influence resulting phenotype has provided. G...