AIMS The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to ana...

After the Klinefelter syndrome, Y chromosomal microdeletions are the second most frequent genetic cause of male infertility. The European Academy Andrology (EAA) and the European Molecular genetics Quality Network (EMQN) revised the new 2014 laboratory guidelines on Sep 2013 based on 1999 and 2004 editions according to 12 years clinical accumulation and specialist consensus. The new guideline e...

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: the aim of this study was to determine the incidence of azf (azoospermia factor) microdeletions of the y chromosome in infertile turkish male patients and intracytoplasmic sperm injection (icsi) outcome of these patients. objective: this study was undertaken in order to evaluate the outcome of intracytoplasmic sperm injection (icsi) in infertil man with azf microdeletions materials ...

OBJECTIVE To analyze DNA from women with premature ovarian failure (POF) for genome-wide copy-number variations (CNVs), focusing on novel autosomal microdeletions. DESIGN Case-control genetic association study. SETTING Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas. PATIENT(S) Of 89 POF patients, eight experienced primary amenorrhea and 81 exhibited se...

Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female I...

Significant advances in treatment have enabled previously infertile males to achieve fatherhood, when only a few years ago they would have had no chance of biological paternity. In contrast to the overall success of assisted reproduction, the aetiology of male-factor infertility is poorly understood. Recent studies have shown, however, that a significant proportion of men with severe infertilit...

Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism. Recently, several microhomology-mediated repair mechanisms--such as microhomology-mediated end-joining (MMEJ), fork stalling and template switching (FoSTeS), microhomology-mediated break-induced replication (MMBIR), serial replication slippa...

The aim of this study was to evaluate the correlation between chromosomal polymorphisms and male infertility. The patients were diagnosed with azoospermia or oligospermiaby a semen analysis. Chromosomal analysis was performed on peripheral blood lymphocytes obtained from the patients, with standard G-banding and C-banding. Y chromosome microdeletions were detected by multiplex polymerase chain ...

OBJECTIVE To determine whether the presence of a Y microdeletion confers any adverse effects on in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI) outcome. DESIGN Retrospective case-control study. SETTING Academic infertility center. PATIENT(S) A total of 17 patients with Y microdeletions who attempted IVF/ICSI cycles at our center between March 1996 and March 2002 were...