Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001639
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Evaluation of Patients With Unresolved Chromosome Abnormalities
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Evaluation of Patients With Unresolved Chromosome Aberrations
Status:
COMPLETED
Status Verified Date:
1999-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
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
Detailed 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 97-HG-0045 | None | None | None |