نتایج جستجو برای: y chromosomal microdeletions
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Received 14 January 1997 Revised version accepted for publication 28 May 1997 Abstract Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome were detected in seven patients, in six ofwhom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involve...
Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome were detected in seven patients, in six of whom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involved the SPGY gene. The size of the deletion was not apparently related to the severity o...
background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective: to evaluate the sensitiv...
In bipolar disorder (BD) and schizophrenia (SZ) rare and de novo chromosomal microdeletions and microduplications (CNVs) have strong effects on risk. For de novo CNVs, the risk of BD or SZ is 10% and for deletions of the q11 region on chromosome 22, the risk of either of these disorders is 77%. A not-insignificant minority of BD and SZ patients have these types of event (4-6.5%). Psychotherapeu...
Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. We analyzed an engineered mouse strain carrying a chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. We uncovered a previously unknown alteration in the biogenesis of microRNAs (miRNAs) and identified a subset of brain miRNAs affected by th...
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a d...
Genetic causes can be directly responsible for various clinical conditions of male and female infertility and genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. Chromosome abnormalities account for 60% of all spontaneous abortions, and the most common type, trisomy, is closely...
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