Evaluation of Patients With Unresolved Chromosome Abnormalities
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 abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities.
Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children.
When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.
There is a range of genomic aberrations from aneuploidy down to single base pair deletions or inserts. Present technology uses microscopic cytogenetics for detection of large rearrangements (greater than 2 Mb) and molecular techniques for small rearrangements (less than 2 Mb). There is a gap in practical diagnostic technology in that microscopic cytogenetics has poor sensitivity for aberrations less than 5 Mb and the molecular techniques are cumbersome for clinical use in the megabase range. In many cases it is possible to determine that an aberration is present by microscopic cytogenetics but cannot be characterized. We propose to use Spectral Karyotyping (SKY) and supplementary FISH and molecular techniques to characterize these aberrations. Subjects will be seen in OP9 for a clinical genetics evaluation and phlebotomy for SKY. Confirmation of SKY results will be performed by standard FISH, genomic content mapping, and other standard techniques.
National Human Genome Research Institute (NHGRI)
National Institutes of Health Clinical Center (CC)
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00001639
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Congenital structural abnormalities of the mouth and jaws, including the dentition.
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
Low back pain is a frequent cause of disability and a common reason for outpatient care in veterans. Magnetic resonance imaging (MRI) of the lower back often reveals abnormalities,which ma...
Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinica...
This study will examine the effects of spinal cord abnormalities on perioperative neurovesical dysfunction in patients with anorectal abnormalities.
The purpose of the study is to identify biological data linked to auto immune abnormalities associated with Down Syndrome.
The purpose of this study is to learn whether HIV-infected patients have blood abnormalities which could lead to heart attack or stroke, and to find out what factors may contribute to thes...
Generally, the electrolyte abnormalities are seen in many hospitalized patients, and this problem increases in ones with heart diseases. The purpose of this study is determination of the prevalence of...
The aim of this study was to explore root shape abnormalities, to investigate the influence of root form abnormalities on periodontal attachment loss, and to gather basic data to assist in the diagnos...
There is a "chondrodystrophy" syndrome in the Han Wistar rat fetus that manifests as characteristic skeletal abnormalities such as bent and/or short long bones, and is classified as permanent detrimen...
Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations. During the progression to blastic...
There is limited data on pulmonary function test (PFT) abnormalities in children treated with modern irradiation techniques. PFT abnormalities have not been correlated with the dose and volume of irra...