Search results for "Trisomy"
showing 10 items of 46 documents
Expression of aquaporins early in human pregnancy
2011
Abstract Background Aquaporins (AQPs) constitute a family of channel proteins implicated in transmembrane water transport. Thirteen different AQPs (AQP0–12) have been described but their precise biologic function still remains unclear. AQPs 1, 3, 4, 8, and 9 expression has been described in human chorion, amnion and placenta; however, AQP4 is the only that has been identified in the first trimester of human pregnancy. Objective To assess multiplicity of AQPs expression from 10th to 14th week gestation. Population and methods Chorionic villi samples (CVS) collected in pregnant women for prenatal diagnosis were analysed by real time-PCR to assess cDNA expression of AQPs 1, 2, 3, 4, 5, 6, 7, 8…
Impact of chromosomal abnormalities on preimplantation embryo development.
2007
Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed. Results In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) em…
Genomic Abnormalities Acquired in the Blastic Transformation of Splenic Marginal Zone B-cell Lymphoma
2003
Among 20 cases of typical splenic marginal zone lymphoma (SMZL), two cases had blastic transformation. The genetic mechanisms underlying the morphologic transformation were investigated by comparing genetic changes in initial and blastic phases. A complex karyotype including trisomy of 3q and genomic gain of 17q22-q24 was seen in both cases at diagnosis. However, the extra copy of 3q was lost during the transformation process in both tumors. Additionally, the Karpas 1718 cell line, which was derived from a patient with transformed SMZL and carried a trisomy of 3q, also evidenced the spontaneous loss of the extra 3q during the culturing process. Other acquired abnormalities observed exclusiv…
Fluorescence in situ hybridization analysis does not increase detection rate for trisomy 8 in chronic myelomonocytic leukemia.
2014
Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell neoplasm characterized by overlapping myelodysplastic and myeloproliferative features. Diagnosis is based on persistent mo...
Morphological Analysis Combined with a Machine Learning Approach to Detect Utrasound Median Sagittal Sections for the Nuchal Translucency Measurement
2017
The screening of chromosomal defects, as trisomy 13, 18 and 21, can be obtained by the measurement of the nuchal translucency thickness scanning during the end of the first trimester of pregnancy. This contribution proposes an automatic methodology to detect mid-sagittal sections to identify the correct measurement of nuchal translucency. Wavelet analysis and neural network classifiers are the main strategies of the proposed methodology to detect the frontal components of the skull and the choroid plexus with the support of radial symmetry analysis. Real clinical ultrasound images were adopted to measure the performance and the robustness of the methodology, thus it can be highlighted an er…
Alterations in the organization of the isocortical layer I in trisomy 22.
1999
The isocortical layer I of human fetal brains obtained from different cases of chromosomal abnormalities (trisomy 18, 21, 22) and controls without pathological disturbances were investigated histologically and immunohistochemically by using the antibodies SMI 311, SMI 35 and SMI 81 (SNAP 25) as well as antibodies against GAP 43 and calretinin. In cases of trisomy 22 the Cajal-Retzius cells in Nissl-sections and in SMI 311-immunopreparations do not reveal any alterations regarding their location or morphology. However, the axonal plexus, selectively labelled with SMI 35, normally located in layer Ib, is malpositioned in Ia. Likewise, SNAP 25- and GAP 43-immunoreactive structures, which were …
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…
2005
Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …
Karyotype analysis and marker chromosomes of renal cell carcinoma.
1988
Karyotyping was performed in 46 human renal cell carcinomas of various histological grades. Controls included chromosome analysis of normal renal parenchymal cells from the same patients. Various numerical chromosome aberrations were found as well as marker chromosomes. They are specific of the individual tumor but no single marker was identified occurring in all tumors tested. Only trisomy 3 was found in different tumors (31%), suggesting a more general character of this aberration. Histological dedifferentiation and large tumor size correlate with focusing of the karyotype towards distinct chromosomal modes indicative of distinct tumor cell subclones within these tumors. Their rapid growt…
Does Down's syndrome support the homocysteine theory of atherogenesis?
2006
Abstract Down syndrome (DS) is generally considered as an “atheroma-free model”. In this preliminary study, we investigated homocysteine, folate and Vitamin B 12 levels in 13 DS patients (male, average age 60 years) and 20 age-matched individuals. We also studied lipid fractions, and polymorphisms for Cystothionine β-synthase (CBS), 5,10-methyl-tetrahydro-folate reductase (MTHFR) and apolipoprotein E (Apo-E) genes. However, DS patients with the MTHFR TT genotype showed an increased of plasma homocysteine (tHcy). Our results indicate that this group of “healthy old” Down syndrome patients, although showing some classical biochemical risk factors for atherosclerosis, did not suffer clinical c…
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011
2015
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, …