Evaluation of Patients With Unresolved Chromosome Abnormalities

2014-08-26 22:59:31 | BioPortfolio

Summary

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.

Description

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.

Study Design

N/A

Conditions

Abnormalities

Location

National Human Genome Research Institute (NHGRI)
Bethesda
Maryland
United States
20892

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-26T22:59:31-0400

Clinical Trials [92 Associated Clinical Trials listed on BioPortfolio]

A Prospective Cohort Study of MR Abnormalities and Back Pain Risk

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...

Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities

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...

Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities

This study will examine the effects of spinal cord abnormalities on perioperative neurovesical dysfunction in patients with anorectal abnormalities.

Pilot Study of Auto-immune Abnormalities Associated With Down Syndrome

The purpose of the study is to identify biological data linked to auto immune abnormalities associated with Down Syndrome.

Redistribution of Fat and Metabolic Change in HIV Infection: Protocol 2 (FRAM Fat 2)

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...

PubMed Articles [1531 Associated PubMed Articles listed on BioPortfolio]

Microstructural abnormalities of the brain white matter in attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is an early-onset neurodevelopmental disorder with multiple behavioural problems and executive dysfunctions for which neuroimaging studies have reported...

Electrocardiographic abnormalities and dyslipidaemic syndrome in children with sickle cell anaemia.

Lipid and electrocardiographic (ECG) abnormalities have been reported in adults with sickle cell anaemia (SCA) and may reflect underlying structural and/or functional damage. However, the relationship...

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies MRI as the best predictor of clinical outcome.

The spectrum of CNS abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and non-melanotic pathology. Historically, symptomatic CNS a...

Hysterosalpingographic Features of Cervical Abnormalities: Acquired structural Abnormalities.

Cervical abnormalities may be congenital or acquired. Congenital cervical structural anomalies are relatively uncommon, whereas acquired cervical abnormalities are commonly seen in gynecology clinics....

Characterization of Abnormal Optic Nerve Head Morphology in Albinism Using Optical Coherence Tomography.

To characterize abnormalities in three-dimensional optic nerve head (ONH) morphology in people with albinism (PWA) using spectral-domain optical coherence tomography (SD-OCT) and to determine whether ...

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.

More From BioPortfolio on "Evaluation of Patients With Unresolved Chromosome Abnormalities"


Advertisement
 

Relevant Topics

Bioinformatics
Latest News Clinical Trials Research Drugs Reports Corporate
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

DNA sequencing
Latest News Clinical Trials Research Drugs Reports Corporate
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Advertisement
 

Searches Linking to this Trial