نتایج جستجو برای: y chromosome microdeletion
تعداد نتایج: 604735 فیلتر نتایج به سال:
Microdeletion syndromes are due to submicroscopic chromosomal deletions and display a complex clinical and behavioral phenotype. This occurs because of an imbalance of normal dosage of genes that are present in that segment of chromosome. Many clinical characteristics of the well-known microdeletion syndromes are very specific and have been well defined. It is not always possible to detect thes...
Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly...
The success of the Human Genome Project (HGP) has provided a blueprint for the approximately 20,000 gene-encoded proteins potentially active in all of the hundreds of cell types that make up the human body. Yet we still have limited knowledge about a majority of the gene-encoded proteins which are the “building blocks of life” and “cellular machinery”. It is estimated that for nearly half of th...
Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on seq...
Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and percept...
Pregnancy achieved with sperm from a patient with globozoospermia is rare, even after ICSI, since the activation of the oocyte may not occur in this disorder. Therefore, activation of the oocytes by piezoelectricity or calcium ionophores has been suggested, although spontaneous activation of the oocyte after ICSI has been reported in some cases. We report a successful pregnancy in a couple in w...
We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.
objective: microdeletions of the y chromosome long arm are the most common molecular genetic causes of severe infertility in men. they affect three regions including azoospermia factors (azfa, azfb and azfc), which contain various genes involved in spermatogenesis. the aim of the present study was to reveal the patterns of y chromosome microdeletions in iranian infertile men referred to royan i...
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