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...

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...

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...

The proximal 15q11-q13 region contains 5 breakpoints (BP1-BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays,...

Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infe...

UNLABELLED The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients. Here, we report that mice with a heterozygous deletion on a C57BL/6 background (D/+ mice) demonstrated phen...

Objective: Microdeletions of azoospermia factor (AZF) regions in Y chromosome were a genetic risk factor of spermatogenic failure and male infertility. Most laboratories carried out the AZF microdeletion testing by using peripheral intravenous blood, and AZF microdeletion in spermatozoa of infertile patients was sometimes not identical to that of peripheral intravenous blood due to the existenc...

We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in thi...

Objective: Microdeletions of azoospermia factor (AZF) regions in Y chromosome were a genetic risk factor of spermatogenic failure and male infertility. Most laboratories carried out the AZF microdeletion testing by using peripheral intravenous blood, and AZF microdeletion in spermatozoa of infertile patients was sometimes not identical to that of peripheral intravenous blood due to the existenc...