نتایج جستجو برای: common aneuploidies
تعداد نتایج: 682917 فیلتر نتایج به سال:
OBJECTIVE To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service. METHODS Five cases with secondary findings were reviewed. RESULTS In Case 1, NIPT revealed a large duplication in chromosome 18p, which was supported by arrayCGH of amniocyte DNA, with final karyotype showing ...
Congenital cardiovascular malformations (CVMs) are the most common birth defect, affecting approximately 8 per 1000 live births. Roughly 25% of CVMs occur in the context of multiple congenital anomalies or as part of a genetic syndrome, while the other 75% of individuals present as an isolated, nonsyndromic CVM.1 Genomic disorders comprise the majority of syndomic CVMs, exemplified by aneuploid...
Alzheimer’s disease (AD), as the most common form of dementia, has for many years attracted the attention of researchers around the world, primarily because of the problems of reliable diagnostic methods that could help in the early detection of this devastating disease. One of the important aspects of genetic research related to AD is the analysis of chromosome instability which includes: aneu...
Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestati...
Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to a...
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group o...
Most human aneuploidies originate maternally, due in part to the presence of highly stringent checkpoints during male meiosis. Indeed, male sterility is common among aneuploid mice used to study chromosomal abnormalities, and male germline transmission of exogenous DNA has been rarely reported. Here we show that, despite aberrant testis architecture, males of the aneuploid Tc1 mouse strain prod...
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