نتایج جستجو برای: uniparental disomy
تعداد نتایج: 1450 فیلتر نتایج به سال:
Fluorescence in situ hybridization (FISH) has facilitated the detection of microdeletions seen in PraderWilli/Angelman (PW/AS), Williams and DiGeorge syndromes. Out of 374 suspected cases tested at Jaslok Hospital in the past 5 years, 73 were positive, including 29 cases of Angelman, 16 of Prader-Willi, 24 of Williams and 4 of DiGeorge syndrome. Male preponderance was seen, mainly in Williams s...
In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Sco...
Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH...
BACKGROUND Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was to evaluate the advantage of high-resol...
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
Results of a molecular-genetic study on the mechanism of uniparental disomy (UPD) in three individuals are reported. Case 1 was a physically normal adult whose Rh blood-type showed mosaicism of two phenotypes, D+ (or D/D genotype) and D-(or d/d genotype), while his father and mother were a D/d heterozygote and a D/D homozygote respectively. Allele-typing of his peripheral blood leukocytes and b...
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutat...
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