BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...

Background: Around 10 % of infertile men and 1 percent all males have azoospermia. There are two types azoospermia, which obstructive non-obstructive Non-obstructive azoospermia's main mechanism is because the testes fail to produce sex hormone induce spermatogenesis (primary testicular failure).
 Case: A patient 28 years old has a job as car paint worker. He came with chief complaint infe...

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...

BACKGROUND: It is known that 22q11.2 microdeletion is a submicroscopic chromosomal anomaly with cardiac and extra-cardiac manifestations. The prevalence and manifestations in north India have not been well characterized. OBJECTIVES: This study was designed to determine the prevalence of 22q11.2 microdeletion in congenital cardiac malformation cases referred for surgery from north India and to a...

You have accessJournal of UrologyInfertility: Epidemiology & Evaluation I (MP21)1 Sep 2021MP21-04 SUCCESSFUL SPERM RETRIEVAL FOR MEN WITH Y CHROMOSOME AZFC MICRODELETION I-Shen Huang, Wei-Jen Chen, and William J Huang HuangI-Shen More articles by this author , ChenWei-Jen Chen HuangWilliam View All Author Informationhttps://doi.org/10.1097/JU.0000000000002006.04AboutPDF ToolsAdd to favoritesDow...

Mequindox (MEQ) is a relatively new synthetic antibacterial agent widely applied in China since the 1980s. However, its reproductive toxicity has not been adequately performed. In the present study, four groups of male Kunming mice (10 mice/group) were fed diets containing MEQ (0, 25, 55 and 110 mg/kg in the diet) for up to 18 months. The results show that M4 could pass through the blood-testis...

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 & OBJECTIVES Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis...

microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...