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We list hundreds of Clinical Trials about "Evaluation of Patients With Unresolved Chromosome Abnormalities" on BioPortfolio. We draw our references from global clinical trials data listed on ClinicalTrials.gov and refresh our database daily.
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The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abn...
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facili...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have been demonstrated to cause ARS. In this study, we performed complete ophthalmologic examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.
The risk of abnormal chromosome and structure is much higher in twins than in singletons, and traditional early pregnancy screening strategy for single pregnancy is not suitable for twins. Based on our management experience of fetal medicine at twin pregnancy, and multi-center cooperation, the study will carry out the following clinical studies: 1. to explore a suitable, early, noninvasive and accurate prenatal screening strategy for twin pregnancy. 2. fetal ch...
This study will examine the effects of spinal cord abnormalities on perioperative neurovesical dysfunction in patients with anorectal abnormalities.
Clinically isolated syndrome (CIS) can evolve into multiple sclerosis. In CIS patients, episodic memory is frequently impaired. Memory disorders could be preceded by microstructural abnormalities without visible atrophy in hippocampus. A recent MRI imaging of diffusion called NODDI (Neurite Orientation Dispersion and Density Imaging) can measure specifically microstructural abnormalities and map the axons in the white matter (WM) and dendrites in the grey matter (GM). The aim o...
To investigate the genetic basis of obesity by fine mapping an obesity quantitative trail linkage (QTL) linked to chromosome 3q.
In order to distinguish between clonal instability driven by imatinib in CML and actual changes with secondary clones induced by imatinib we would like to investigate the karyotype of non-CML patients treated with imatinib such as GIST patients.
The purpose of this study is to prospectively validate the new risk model, based on minimal residual disease (MRD) response level and oncogenetic status by comparing historical results of GRAALL-2005 with those of GRAALL-2014 in an identical population of patients (Philadelphia chromosome negative, B lineage ALL, aged 18 to 59 years old).
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants ...
In this study, investigators assess, using Fluorescence in situ Hybridization (FISH) and Comparative Genomic Hybridization (CGH) arrays for Preimplantation Genetic Screening (PGS), the incidence of aneuploidies in spermatozoa and embryos from infertile men with and without microdeletions who undergo assisted reproduction in their clinics.
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm's tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healt...
Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Examination of Osteosarcoma Tissue Samples From Two Family Members for Loss of Heterozygosity in the Chromosome 18 Region, Genetically Linked With Paget's Disease of Bone
Researchers have previously demonstrated loss of heterozygosity in a region on chromosome 18q, associated with osteogenic sarcomas in bone affected by Paget's disease. The loci used in this study are specifically described by those authors as showing loss of heterozygosity in 6 of 7 affected families.
To identify gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma.
Primary sclerosing cholangitis (PSC) is a chronic inflammatory condition of the bile ducts of unknown etiology. It is characterized by diffuse inflammation and stricturing of the entire biliary tree, eventually resulting in cirrhosis of the liver. Patients with PSC are at increased risk for the development of cholangiocarcinoma (CCA), a cancer arising from bile duct epithelium. This risk is estimated to be approximately 1 to 1.5% per year. It is postulated that chronic inflamma...
We, the investigators at the University of Texas Health Science Center at San Antonio, want to learn if height and IQ (intelligence quotient) scores are improved by growth hormone (GH) treatment in children with chromosome 18 deletions and abnormal growth. Data from a previous study showed that growth hormone improved height in all children with 18q- and growth hormone deficiency. In addition, most of the study participants on growth hormone treatment showed an increase in IQ...
In the way for developing and optimizing protocol to be used as non- invasive methodology used as routine testing for PGS. This protocol is to b adapted to replace the using of life embryo cells for genetic testing and aneuploidy study as well as for any type of genetic testing including single gene disorder or HLA typing or study.
Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the pregnancy, and so to obtain a reliable alternative in invasive procedure.
Natera is recruiting patients for a research study evaluating pregnancy and implantation rates in women undergoing In Vitro Fertilization (IVF) and Preimplantation Genetic Screening (PGS). PGS is also referred to as Preimplantation Genetic Diagnosis (PGD) for aneuploidy. Healthy women undergoing IVF who are between the ages of 35 to 42 years are being recruited to participate in a randomized study. The purpose of this study is to determine whether PGS- testing of embryos crea...
A retrospective chart review study of Philadelphia chromosome-negative R/R ALL patients in the US.
With the development of society, more and more aged pregnant women because of various reasons, their abnormality rate of egg chromosome was higher than that of young women, then the abnormality rate of embryo chromosome is higher too, so the pregnancy rate in aged women is lower, abortion rate is higher. In order to improve the pregnancy rate in aged women, cut down their abortion rate 、fetal birth with abnormal chromosome, and the risk of pregnancy termination after the pren...
RATIONALE: Imatinib mesylate may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth. Giving imatinib mesylate after a donor stem cell transplant may prevent the recurrence of Philadelphia chromosome-positive leukemia. PURPOSE: This phase I/II trial is studying the side effects of giving imatinib mesylate after a donor stem cell transplant and to see how well it works in treating patients with Philadelphia chromosome-positive leukemia.
This study is designed to investigate the association of the clinical and laboratory parameters or data with the cardiac structural and functional abnormalities in systemic lupus erythematosus(SLE). Patients with at least four ACR classification criteria for SLE and stable clinical condition (no need for immunosuppressive therapy intensification, i.e. current immunosuppressive drug dose increase or introduction of an additional immunosuppressive drug within last 3 months) will ...
With this study - Total Therapy IIIB - researchers are extending the findings of Total Therapy III based what they have learned from the first two studies (Total Therapy I and II), with new research strategies designed to explore why chromosome abnormalities found in persons with multiple myeloma affect the outcome of drug therapy used in this disease."